Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing
نویسندگان
چکیده
منابع مشابه
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing
Inherited peripheral neuropathies (IPNs) are a group of related diseases primarily affecting the peripheral motor and sensory neurons. They include the hereditary sensory neuropathies (HSN), hereditary motor neuropathies (HMN), and Charcot-Marie-Tooth disease (CMT). Using whole-exome sequencing (WES) to achieve a genetic diagnosis is particularly suited to IPNs, where over 80 genes are involved...
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ژورنال
عنوان ژورنال: Hormone Research in Paediatrics
سال: 2016
ISSN: 1663-2818,1663-2826
DOI: 10.1159/000448754