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Holoprosencephaly Type 6
HPE6

Presentation

In some cases there may be no unique facial features present or obvious. Middle interhemispheric variant: when the brain fuses in the middle. [fdna.health]

[…] angiographiques de l'holoprosencéphalie alobaire Angiographische Merkmale der alobären Holoprosencephalie Neuroradiology volume 6, pages 270–276 (1974)Cite this article 26 Accesses 10 Citations Metrics details Summary The purpose of this report is to present [link.springer.com]

Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature. Am. J. Med. Genet. C Semin. Med. Genet., 154C(1):15869, 2010. [ Links ] Lacbawan, F.; Solomon, B. [scielo.cl]

Etiology

Part C, Seminars in medical genetics 2010 The wide variation in cerebral and facial phenotypes and the recognized etiologic heterogeneity of holoprosencephaly (HPE) contribute to the observed inter‐study heterogeneity, and non‐craniofacial anomalies, [semanticscholar.org]

Current perspectives on the etiology of agnathia-otocephaly. Eur. J. Med. Genet., 53(6):358-66, 2010. [ Links ] Geng, X. & Oliver, G. Pathogenesis of holoprosencephaly. J. Clin. Invest., 119(6):1403-13, 2009. [ Links ] Golinko, M. [scielo.cl]

Epidemiology

SHOWING 1-10 OF 15 REFERENCES Epidemiology of holoprosencephaly: Prevalence and risk factors I. M. OrioliE. Castilla Medicine American journal of medical genetics. [semanticscholar.org]

Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research. Am. J. Med. Genet. C Semin. Med. [scielo.cl]

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