In:
Clinical Case Reports, Wiley, Vol. 7, No. 8 ( 2019-08), p. 1522-1525
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
2050-0904
,
2050-0904
Language:
English
Publisher:
Wiley
Publication Date:
2019
detail.hit.zdb_id:
2740234-4
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