Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia

Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmia

Published:2018-10-30 Issue:8-9 Volume:138 Page:831-846
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Slavotinek Anne^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-018-1949-1.pdf

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2. Abouzeid H, Boisset G, Favez T, Youssef M, Marzouk I, Shakankiry N et al (2011) Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. Am J Hum Genet 88:92–98

3. Abouzeid H, Favez T, Schmid A, Agosti C, Youssef M, Marzouk I et al (2014) Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anopththalmin in consanguineous families. Hum Mutat 35:949–953

4. Adolphs N, Klein M, Haberl EJ, Graul-Neumann L, Menneking H, Hoffmeister B (2011) Necrotizing soft tissue infection of the scalp after fronto-facial advancement by internal distraction in a 7-year old girl with Gorlin-Chaudhry-Moss syndrome—a case report. J Craniomaxillofac Surg 39:554–561

5. Aldahmesh MA, Khan AO, Hijazi H, Alkuraya FS (2013) Mutations in ALDH1A3 cause microphthalmia. Clin Genet 84:128–131

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