期刊
TURKISH JOURNAL OF OBSTETRICS AND GYNECOLOGY
卷 14, 期 2, 页码 138-140出版社
GALENOS YAYINCILIK
DOI: 10.4274/tjod.63004
关键词
Harlequin ichthyosis; adenosine triphosphate binding cassette A12; autosomal recessive
Harlequin ichthyosis is a very rare condition that affects the skin of newborns. It is associated with poor barrier function of the skin leading to dehydration and leaves newborns prone to infections. It is due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autosomal recessive disorder. The prognosis is very poor in these cases. Here, we report one such rare case.
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