Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings

In this article, we report on a Brazilian female patient born to consanguineous parents and presenting with alobar holoprosencephaly, severe eye involvement, and unusual skin hyperpigmented lesions. She was found to have a mutation (c.2240T > C; p.Val751Gly) in exon 15 of the PTCH1 gene. Mutation...

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Xehetasun bibliografikoak
Argitaratua izan da:J Pediatr Genet
Egile Nagusiak: Richieri-Costa, Antonio, Vendramini-Pittoli, Siulan, Kokitsu-Nakata, Nancy Mizue, Zechi-Ceide, Roseli Maria, Alvarez, Camila Wenceslau, Ribeiro-Bicudo, Lucilene Arilho
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Georg Thieme Verlag KG 2016
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5423795/
https://ncbi.nlm.nih.gov/pubmed/28496998
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0036-1588028
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