Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity.
about
Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing lossA revised and extended classification of the distal arthrogryposesDe novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.Distal arthrogryposis type 1: clinical analysis of a large kindred.Severe skew foot deformity in a patient with freeman-sheldon syndromeFreeman-Sheldon syndrome: a case report.
P2860
Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity.
description
1991 nî lūn-bûn
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1991年の論文
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1991年学术文章
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1991年学术文章
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1991年学术文章
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1991年学术文章
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1991年学术文章
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1991年学术文章
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1991年學術文章
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1991年學術文章
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name
Association of distal arthrogr ...... e for nosologic heterogeneity.
@en
Association of distal arthrogr ...... e for nosologic heterogeneity.
@nl
type
label
Association of distal arthrogr ...... e for nosologic heterogeneity.
@en
Association of distal arthrogr ...... e for nosologic heterogeneity.
@nl
prefLabel
Association of distal arthrogr ...... e for nosologic heterogeneity.
@en
Association of distal arthrogr ...... e for nosologic heterogeneity.
@nl
P2093
P356
P1476
Association of distal arthrogr ...... e for nosologic heterogeneity.
@en
P2093
Schrander-Stumpel C
P304
P356
10.1002/AJMG.1320380412
P577
1991-03-01T00:00:00Z