Trichothiodystrophy with severe cardiac and neurological involvement in two sisters.
about
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestationsAuditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degenerationMitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.Bone fragility and decline in stem cells in prematurely aging DNA repair deficient trichothiodystrophy miceDNA damage in the oligodendrocyte lineage and its role in brain aging.Cerebellar and cerebral atrophy in trichothiodystrophy.New clinico-genetic classification of trichothiodystrophy.Disorders of Keratinization
P2860
Q24633351-9D44FD94-C164-4D80-BFDE-0510F2B17E87Q30445003-802BBF11-1819-451F-936B-0AF799F0AA94Q35924632-46D79F72-74D6-4EE4-9EB7-70560EDEE385Q36927452-6C45E817-388D-46C1-B11A-6ABDDCE7FB19Q48709568-9F8BA5E8-68DC-41D2-95FC-41F2CBC0B743Q50472995-C25AB7FF-9789-47B7-BB76-4272FE25CE9CQ55052146-CC27463A-B213-42BF-BD65-8D440F8517FAQ58859701-79378056-E4FA-4A23-8F24-37C2797AC0B2
P2860
Trichothiodystrophy with severe cardiac and neurological involvement in two sisters.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh-hant
name
Trichothiodystrophy with severe cardiac and neurological involvement in two sisters.
@en
Trichothiodystrophy with severe cardiac and neurological involvement in two sisters.
@nl
type
label
Trichothiodystrophy with severe cardiac and neurological involvement in two sisters.
@en
Trichothiodystrophy with severe cardiac and neurological involvement in two sisters.
@nl
prefLabel
Trichothiodystrophy with severe cardiac and neurological involvement in two sisters.
@en
Trichothiodystrophy with severe cardiac and neurological involvement in two sisters.
@nl
P2093
P356
P1476
Trichothiodystrophy with severe cardiac and neurological involvement in two sisters.
@en
P2093
E Boltshauser
E Valsangiacomo
S P Toelle
P2888
P304
P356
10.1007/S004310100845
P577
2001-12-01T00:00:00Z