Distal arthrogryposis and neonatal hypotonia: an unusual presentation of Prader-Willi syndrome (PWS).
about
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.Benefits and limitations of prenatal screening for Prader-Willi syndrome.Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2.Muscle dysfunction caused by loss of Magel2 in a mouse model of Prader-Willi and Schaaf-Yang syndromes.
P2860
Distal arthrogryposis and neonatal hypotonia: an unusual presentation of Prader-Willi syndrome (PWS).
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年學術文章
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2004年學術文章
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name
Distal arthrogryposis and neon ...... f Prader-Willi syndrome (PWS).
@en
Distal arthrogryposis and neon ...... ation of Prader-Willi syndrome
@nl
type
label
Distal arthrogryposis and neon ...... f Prader-Willi syndrome (PWS).
@en
Distal arthrogryposis and neon ...... ation of Prader-Willi syndrome
@nl
prefLabel
Distal arthrogryposis and neon ...... f Prader-Willi syndrome (PWS).
@en
Distal arthrogryposis and neon ...... ation of Prader-Willi syndrome
@nl
P2093
P2860
P356
P1476
Distal arthrogryposis and neon ...... f Prader-Willi syndrome (PWS).
@en
P2093
Gras Le Guen C
Le Vaillant C
P2860
P2888
P304
P356
10.1038/SJ.JP.7211185
P577
2004-11-01T00:00:00Z