A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.
about
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.Genetic causes of congenital diaphragmatic herniaZygotic Porcn paternal allele deletion in mice to model human focal dermal hypoplasia.Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic herniaMutation update for the PORCN gene.Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.Unilateral Focal Dermal Hypoplasia (Goltz Syndrome): Case Report and Literature Review.
P2860
Q34429178-29B26B04-4226-4EEE-A5D4-85F879F7F75EQ34657017-9F001D9D-AB45-49A8-8562-9C537BD38B9CQ35041176-40D8E28F-A4E2-4A31-85AE-05414B505F81Q35581878-3D84F225-C84B-4F51-89A5-AA44AA928065Q37862666-DD389C01-906E-4482-849D-3DF9F66130C9Q41440531-0E271B3C-0B5F-4269-84F0-1B9C9A797B6DQ53029088-CB687018-F9A9-4D5A-87D4-5E0A280A9CB5Q55256785-43E189C0-1938-4932-85B8-923784340A9D
P2860
A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.
description
2010 nî lūn-bûn
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2010年の論文
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2010年学术文章
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2010年学术文章
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2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
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2010年學術文章
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name
A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.
@en
A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.
@nl
type
label
A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.
@en
A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.
@nl
prefLabel
A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.
@en
A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.
@nl
P2093
P2860
P1476
A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth
@en
P2093
Carla Barbêdo
Dorothea Bornholdt
Jorge Basto
Karl-Heinz Grzeschik
Marcia Mártins
Margarida Lima
Odilia Pinho
P2860
P304
P356
10.3109/15513811003796912
P577
2010-01-01T00:00:00Z