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Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia
Variants in PORCN are a cause of Goltz-Gorlin syndrome or Focal Dermal Hypoplasia, an X-linked dominant disorder affecting heterozygous females and until now considered to be embryonic lethal in males. Exome sequencing was performed in a family in which two male siblings were characterized by microp...
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| Yayımlandı: | Eur J Hum Genet |
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| Asıl Yazarlar: | , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Nature Publishing Group
2015
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4666577/ https://ncbi.nlm.nih.gov/pubmed/25026905 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.135 |
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