Schulze U, Distl O. Case report. Arhinia and cyclopia in a German Fleckvieh calf. DTW. 2006;113(6):236–9.
CAS
Google Scholar
Cohen MM. Holoprosencephaly. Clinical, anatomic, and molecular dimensions. Birth Defects Res A Clin Mol Teratol. 2006;76(9):658–73.
Article
CAS
PubMed
Google Scholar
Poaty H, Gentien D, Reyes C, Silou J. Macroscopic analysis of fetus having Arhinencephaly, Synophthalmia and Holoprosencephaly. Human Genet Embryol. 2016;6:135.
Article
Google Scholar
Roessler E, Muenke M. The molecular genetics of holoprosencephaly. Am J Med Genet C: Semin Med Genet. 2010;1:52–61.
Article
CAS
Google Scholar
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007;2(1):8.
Article
PubMed
PubMed Central
Google Scholar
Farlie PG, Baker NL, Yap P, Tan TY. Frontonasal dysplasia: towards an understanding of molecular and developmental Aetiology. Mol Syndromol. 2016;7(6):312–21.
Article
CAS
PubMed
PubMed Central
Google Scholar
Uz E, Alanay Y, Aktas D, Vargel I, Gucer S, Tuncbilek G, et al. Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum Genet. 2010;86(5):789–96.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lyons LA, Erdman CA, Grahn RA, Hamilton MJ, Carter MJ, Helps CR, et al. Aristaless-like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. Dev Biol. 2016;409(2):451–8.
Article
CAS
PubMed
Google Scholar
Cho D-Y, Zeman D, Miller J. Holoprosencephaly in a bovine calf. Acta Neuropathol. 1985;67(3):322–5.
Article
CAS
PubMed
Google Scholar
Hammoda A, Abdoud M. Cyclopia in a Friesian calf. Egypt J Phytopathol. 1989;17(1):76–82.
Moritomo Y, Tsuda T, Miyamoto H. Craniofacial skeletal abnormalities in anomalous calves with clefts of the face. J Vet Med Sci. 1999;61(10):1147–52.
Article
CAS
PubMed
Google Scholar
Kim B-S, Park H-J, Cho J-W, Berzina D, Zeeshan M, Ejaz S, et al. Cyclopia in a calf. Korean J Vet Serv. 2006;29(4):503–6.
Google Scholar
ÖZcan K, Gürbulak K, Takci I, ÖZen H, Kacar C. Pancarci̇ M. atypical cyclopia in a brown swiss cross calf: a case report. Anat Histol Embryol. 2006;35(3):152–4.
Article
PubMed
Google Scholar
Malik AA, Sheikh GG, Lone FA, Islam R, Khatun A. Delivery of Cyclopia monster fetus from a crossbred heifer suffering from dystocia. J Adv Vet Anim Res. 2013;3(4):167–8.
Google Scholar
Osman HE, Shuaib Y, Ibrahim Z. Congenital deformities in the Sudan 5. Craniofacial deformities and coccygeal agenesis in anomalous bovine calf. Assiut vet. Med. J; 2013.
Google Scholar
Nourani H, Karimi I, Vardanjani HR. Synophthalmia in a Holstein cross calf, vol. 333. Urmia: Veterinary Research Forum Faculty of Veterinary Medicine, Urmia University; 2014.
Google Scholar
Agerholm JS, McEvoy FJ, Heegaard S, Charlier C, Jagannathan V, Drögemüller C. A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle. BMC Genet. 2017;18(1):74.
Article
PubMed
PubMed Central
CAS
Google Scholar
Pandey A, Saini G, Chander S, Chaudhary R, Jakhar P, Singh M, et al. Dystocia due to abnormal calf in a buffalo: a case report. Buffalo Bull. 2010;29(4):315–7.
Google Scholar
Singh H, Gupta G, Jan M, Nabi S, Singh J, Dey S. Atypical cyclopia in a buffalo calf. Buff Bull. 2013;32:1.
Google Scholar
Albarella S, Ciotola F, D’Anza E, Coletta A, Zicarelli L, Peretti V. Congenital malformations in river Buffalo (Bubalus bubalis). Animals. 2017;7(2):9.
Article
PubMed Central
Google Scholar
Brachthäuser L, Klumpp S, Hecht W, Kuchelmeister K, Reinacher M, Ebbert W, et al. Aprosencephaly with otocephaly in a lamb (Ovis aries). Vet Pathol. 2012;49(6):1043–8.
Article
PubMed
Google Scholar
Dantas F, Medeiros G, Figueiredo A, Thompson K, Riet-Correa F. Skeletal dysplasia with craniofacial deformity and disproportionate dwarfism in hair sheep of northeastern Brazil. J Comp Pathol. 2014;150(2):245–52.
Article
CAS
PubMed
Google Scholar
Welch K, Panter K, Lee S, Gardner D, Stegelmeier B, Cook D. Cyclopamine induced synophthalmia in sheep: defining a critical window and toxicokinetic evaluation. J Appl Toxicol. 2009;29(5):414–21.
Article
CAS
PubMed
Google Scholar
Rashed R, Al-kafafy M, Abdellah B, Sharshar A, Shoghy K, Erasha A, et al. Cyclopia of goat: micro and macroscopic, radiographic and computed tomographic studies. Alexandria J Vet Sci. 2014;42:1.
Google Scholar
Brown LY, Odent S, David V, Blayau M, Dubourg C, Apacik C, et al. Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. Hum Mol Genet. 2001;10(8):791–6.
Article
CAS
PubMed
Google Scholar
Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Duff FL, et al. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype–phenotype correlations. Hum Mutat. 2004;24(1):43–51.
Article
CAS
PubMed
Google Scholar
Xiong J, Xiang B, Chen X, Cai T. Case report: a novel mutation in ZIC2 in an infant with microcephaly, holoprosencephaly, and arachnoid cyst. Medicine. 2019;98:10.
Google Scholar
Warr N, Powles-Glover N, Chappell A, Robson J, Norris D, Arkell RM. Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation. Hum Mol Genet. 2008;17(19):2986–96.
Article
CAS
PubMed
Google Scholar
Quélin C, Bendavid C, Dubourg C, De La Rochebrochard C, Lucas J, Henry C, et al. Twelve new patients with 13q deletion syndrome: genotype–phenotype analyses in progress. Eur J Med Genet. 2009;52(1):41–6.
Article
PubMed
Google Scholar
Lawson MJ, Zhang LJN. Sexy gene conversions: locating gene conversions on the X-chromosome. Nucleic Acids Res. 2009;37(14):4570–9.
Article
CAS
PubMed
PubMed Central
Google Scholar
Brewster R, Lee J, Altaba ARJN. Gli/Zic factors pattern the neural plate by defining domains of cell differentiation. Nature. 1998;393(6685):579.
Article
CAS
PubMed
Google Scholar
Mizugishi K, Aruga J, Nakata K, Mikoshiba K. Molecular properties of Zic proteins as transcriptional regulators and their relationship to GLI proteins. J Biol Chem. 2001;276(3):2180–8.
Article
CAS
PubMed
Google Scholar
Acuna-Hidalgo R, Bo T, Kwint MP, Van De Vorst M, Pinelli M, Veltman JA, et al. Post-zygotic point mutations are an underrecognized source of de novo genomic variation. Am J Hum Genet. 2015;97(1):67–74.
Article
CAS
PubMed
PubMed Central
Google Scholar
Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado MR, Rosenbaum K, et al. Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. J Med Genet. 2010;47(8):513–24.
Article
CAS
PubMed
Google Scholar
Roessler E, Hu P, Marino J, Hong S, Hart R, Berger S, et al. Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling. Hum Mutat. 2018;39(10):1416–27.
Article
CAS
PubMed
Google Scholar
Roessler E, Lacbawan F, Dubourg C, Paulussen A, Herbergs J, Hehr U, et al. The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism. Hum Mutat. 2009;30(4):E541–54.
Article
PubMed
PubMed Central
Google Scholar
Andrews S. A quality control tool for high throughput sequence data. In: Reference Source. http://www.bioinformatics.babraham.ac.uk/projects/fastqc; 2010.
Schmieder R, Edwards R. Quality control and preprocessing of metagenomic datasets. Bioinformatics. 2011;27(6):863–4.
Article
CAS
PubMed
PubMed Central
Google Scholar
Li H, Durbin R. Fast and accurate short read alignment with burrows–wheeler transform. Bioinformatics. 2009;25(14):1754–60.
Article
CAS
PubMed
PubMed Central
Google Scholar
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al. The sequence alignment/map format and SAMtools. Bioinformatics. 2009;25(16):2078–9.
Article
PubMed
PubMed Central
CAS
Google Scholar
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297–303.
Article
CAS
PubMed
PubMed Central
Google Scholar
Cingolani P, Platts A, Wang LL, Coon M, Nguyen T, Wang L, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin). 2012;6(2):80–92.
Article
CAS
Google Scholar
Robinson JT, Thorvaldsdóttir H, Winckler W, Guttman M, Lander ES, Getz G, et al. Integrative genomics viewer. Nat Biotechnol. 2011;29(1):24.
Article
CAS
PubMed
PubMed Central
Google Scholar
Layer RM, Chiang C, Quinlan AR, Hall IM. LUMPY: a probabilistic framework for structural variant discovery. Genome Biol. 2014;15(6):R84.
Article
PubMed
PubMed Central
Google Scholar
Larkin MA, Blackshields G, Brown N, Chenna R, McGettigan PA, McWilliam H, et al. Clustal W and Clustal X version 2.0. Bioinformatics. 2007;23(21):2947–8.
Article
CAS
PubMed
Google Scholar
Mitchell AL, Attwood TK, Babbitt PC, Blum M, Bork P, Bridge A, et al. InterPro in 2019: improving coverage, classification and access to protein sequence annotations. Nucleic Acids Res. 2019;47(D1):D351–60.
Article
CAS
PubMed
Google Scholar