In:
American Journal of Medical Genetics Part A, Wiley, Vol. 185, No. 3 ( 2021-03), p. 995-998
Abstract:
Mandibular hypoplasia, deafness, progeroid feature, and lipodystrophy syndrome (MDPL, MIM# 615381) is an extremely rare and recently recognized early adult onset of progeroid syndrome, with features of generalized lipodystrophy, dysmorphic features, telangiectasia, early onset hearing loss, insulin resistance, and dyslipidemia. Here, we present a 31‐year‐old Chinese woman with MDPL, harboring the recurrent pathogenic variant p.(Ser605del) in POLD1 , illustrating the evolving manifestations of this premature aging disorder from infancy to adulthood.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v185.3
DOI:
10.1002/ajmg.a.62035
Language:
English
Publisher:
Wiley
Publication Date:
2021
detail.hit.zdb_id:
1493479-6
SSG:
12
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