Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
about
Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of earlyCUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP).Syndromic inherited poikiloderma due to a de novo mutation in FAM111B.
P2860
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Expanding the clinical spectru ...... osis due to FAM111B mutations.
@ast
Expanding the clinical spectru ...... osis due to FAM111B mutations.
@en
type
label
Expanding the clinical spectru ...... osis due to FAM111B mutations.
@ast
Expanding the clinical spectru ...... osis due to FAM111B mutations.
@en
prefLabel
Expanding the clinical spectru ...... osis due to FAM111B mutations.
@ast
Expanding the clinical spectru ...... osis due to FAM111B mutations.
@en
P2093
P2860
P50
P1476
Expanding the clinical spectru ...... osis due to FAM111B mutations.
@en
P2093
Albert David
Alice Goldenberg
Antoine Hamel
Armelle Magot
Brigitte Chabrol
Bruno Eymard
Caroline Kannengiesser
Chantal Bou-Hanna
Christel Thauvin
Christian Laboisse
P2860
P2888
P356
10.1186/S13023-015-0352-4
P50
P577
2015-10-15T00:00:00Z
P5875
P6179
1007929835