Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

BACKGROUND: Anophthalmia and microphthalmia are etiologically and clinically heterogeneous. Lenz microphthalmia is a syndromic form that is typically inherited in an X-linked pattern, though the causative gene mutation is unknown. Townes-Brocks syndrome manifests thumb anomalies, imperforate anus, a...

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Detalles Bibliográficos
Autores principales: Bardakjian, Tanya M, Schneider, Adele S, Ng, David, Johnston, Jennifer J, Biesecker, Leslie G
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Case report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2806267/
https://www.ncbi.nlm.nih.gov/pubmed/20003547
http://dx.doi.org/10.1186/1471-2350-10-137

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2806267/
https://www.ncbi.nlm.nih.gov/pubmed/20003547
http://dx.doi.org/10.1186/1471-2350-10-137

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