References
- Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis 2007, 2: 8.
- Poenaru MO, Vilcea ID, Marin A. Holoprosencephaly: two case reports. Maedica 2012, 7: 58–62.
- Tekendo-Ngongang C, Muenke M, Kruszka P. Holoprosencephaly Overview, in GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1530/ (accessed Nov, 2022)
- Geng X, Oliver G. Pathogenesis of holoprosencephaly. Journal of Clinical Investigation 2009, 1191403–1413.
- Solomon BD, Mercier S, Vélez JI, Pineda-Alvarez D E, Wyllie A, Zhou N, et al. Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet Part C Semin Med Genet 2010, 154C133–141.
- Barratt KS, Arkell RM. ZIC2 in Holoprosencephaly. Advances in Experimental Medicine and Biology 2018, 1046269–299.
- Johnson C, Rasmussen S. Non-genetic risk factors for holoprosencephaly. Am J Med Genet Part C Semin Med Genet 2010, 154C73–85.
- Kauvar EF, Muenke M. Holoprosencephaly: recommendations for diagnosis and management. Current Opinion in Pediatrics 2010, 22687–695.
- Miller EA, Rasmussen SA, Siega-Riz AM, Frías JL, Honein MA, National Birth Defects Prevention Study. Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study. Am J Med Genet Part C Semin Med Genet 2010, 154C62–72.
- 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. Journal of Medical Genetics 2010, 47513–524.
- Kruszka P, Muenke M. Syndromes associated with holoprosencephaly. Am J Med Genet Part C Semin Med Genet 2018, 178C229–237.
- Parizad N, Faraji N, Hassanpour A, Goli R, Rostami S, Amanollahzadeh A. Cyclopia, a newborn with a single eye, a rare but lethal congenital anomaly: A case report. Int J Surg Case Rep 2021, 88106548. doi: 10.1016/j.ijscr.2021.106548.
- Gurer HG, Gursoy OO, Eren CY. The assessment of holoprosencephaly cases in the last 10 years. J Clin Med Kaz 2021, 1891-94.
- Demyer W, Zeman W. Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate clinical, electroencephalographic and nosologic considerations. Conf in Neurol 1963, 231-36.
- Keaton AA, Solomon BD, Kauvar EF, El-Jaick K B, Gropman AL, Zafer Y et al. TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype. Molecular Syndromology 2010, 1211–222.
- Oliveira PAL, Silveira MMI, Silva RT, Valle AD. Carbamazepine-responsive chorea in a toddler with semilobar holoprosencephaly: Case report. J Ped Neurosci 2021, 16335-337.
- Barr M Jr, Hanson JW, Currey K, Sharp S, Toriello H, Schmickel RD, Wilson GN. Holoprosencephaly in infants of diabetic mothers. J Pediatr 1983, 102565-8.
- Dubourg C, Kim A, Watrin E, de Tayrac M, Odent S, David V, Dupé V. Recent advances in understanding inheritance of holoprosencephaly. Am J Med Genet Part C Semin Med Genet 2018, 178258–269.
- Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, et al. Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly. Brain 2019, 14235-49.
- 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 (Baltimore) 2019 98:e14780. doi: 10.1097/ MD.0000000000014780.
- Loo C, Pearen A, Ramm GA. The Role of Sonic Hedgehog in Human Holoprosencephaly and Short-Rib Polydactyly Syndromes. Int J MolecSci 2021, 229854.
- Kruszka P, Muenke M. Syndromes associated with holoprosencephaly. Am J Med Genet Part C Semin Med Genet 2018, 178229–237.
- 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. Journal of Medical Genetics 2010, 47: 513–524.
- Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015, 17405-24.