De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi‐Hünermann‐Happle syndrome

Conradi‐Hünermann‐Happle syndrome is a rare X‐linked dominant syndrome affecting the skin, skeletal system, and eyes. Here, we report on a female patient with a de novo heterozygous missense mutation c.301C>T (p.Trp101Arg) of the EMP (emopamil binding protein) gene.

Detalles Bibliográficos
Autores principales: Soler‐Cardona, Ana, Brandau, Oliver, Laccone, Franco, Tanew, Adrian, Radakovic, Sonja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692985/
https://www.ncbi.nlm.nih.gov/pubmed/31428380
http://dx.doi.org/10.1002/ccr3.2213
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author Soler‐Cardona, Ana
Brandau, Oliver
Laccone, Franco
Tanew, Adrian
Radakovic, Sonja
author_facet Soler‐Cardona, Ana
Brandau, Oliver
Laccone, Franco
Tanew, Adrian
Radakovic, Sonja
author_sort Soler‐Cardona, Ana
collection PubMed
description Conradi‐Hünermann‐Happle syndrome is a rare X‐linked dominant syndrome affecting the skin, skeletal system, and eyes. Here, we report on a female patient with a de novo heterozygous missense mutation c.301C>T (p.Trp101Arg) of the EMP (emopamil binding protein) gene.
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spelling pubmed-66929852019-08-19 De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi‐Hünermann‐Happle syndrome Soler‐Cardona, Ana Brandau, Oliver Laccone, Franco Tanew, Adrian Radakovic, Sonja Clin Case Rep Case Reports Conradi‐Hünermann‐Happle syndrome is a rare X‐linked dominant syndrome affecting the skin, skeletal system, and eyes. Here, we report on a female patient with a de novo heterozygous missense mutation c.301C>T (p.Trp101Arg) of the EMP (emopamil binding protein) gene. John Wiley and Sons Inc. 2019-06-28 /pmc/articles/PMC6692985/ /pubmed/31428380 http://dx.doi.org/10.1002/ccr3.2213 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Soler‐Cardona, Ana
Brandau, Oliver
Laccone, Franco
Tanew, Adrian
Radakovic, Sonja
De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi‐Hünermann‐Happle syndrome
title De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi‐Hünermann‐Happle syndrome
title_full De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi‐Hünermann‐Happle syndrome
title_fullStr De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi‐Hünermann‐Happle syndrome
title_full_unstemmed De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi‐Hünermann‐Happle syndrome
title_short De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi‐Hünermann‐Happle syndrome
title_sort de novo mutation of emopamil binding protein (ebp) gene in a girl with conradi‐hünermann‐happle syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692985/
https://www.ncbi.nlm.nih.gov/pubmed/31428380
http://dx.doi.org/10.1002/ccr3.2213
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