A new variant of trichothiodystrophy with recurrent infections, failure to thrive, and death.
about
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestationsHigh-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.Trichothiodystrophy in a child with occult learning disorder.Disorders of Keratinization
P2860
A new variant of trichothiodystrophy with recurrent infections, failure to thrive, and death.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
A new variant of trichothiodys ...... failure to thrive, and death.
@en
A new variant of trichothiodys ...... failure to thrive, and death.
@nl
type
label
A new variant of trichothiodys ...... failure to thrive, and death.
@en
A new variant of trichothiodys ...... failure to thrive, and death.
@nl
prefLabel
A new variant of trichothiodys ...... failure to thrive, and death.
@en
A new variant of trichothiodys ...... failure to thrive, and death.
@nl
P2093
P1476
A new variant of trichothiodys ...... failure to thrive, and death.
@en
P2093
P356
10.1046/J.1525-1470.1998.1998015031.X
P577
1998-01-01T00:00:00Z