Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome.
about
Genetic & epigenetic approach to human obesityPerinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules.Syndromic XLMR genes (MRXS): update 2000.The human obesity gene map: the 2000 update.Fetal renal anomalies and genetic syndromes.The human obesity gene map: the 2001 update.Simpson-Golabi-Behmel syndrome types I and II.The human obesity gene map: the 2002 update.Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour.Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.Sixty years of X-linked mental retardation: a historical footnote.Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.Comment on "Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome".Genetics of Obesity.A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.The Human Obesity Gene Map: The 2004 Update
P2860
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P2860
Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome.
description
1999 nî lūn-bûn
@nan
1999 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Mapping of a new SGBS locus to ...... Simpson-Golabi-Behmel syndrome
@nl
Mapping of a new SGBS locus to ...... impson-Golabi-Behmel syndrome.
@ast
Mapping of a new SGBS locus to ...... impson-Golabi-Behmel syndrome.
@en
type
label
Mapping of a new SGBS locus to ...... Simpson-Golabi-Behmel syndrome
@nl
Mapping of a new SGBS locus to ...... impson-Golabi-Behmel syndrome.
@ast
Mapping of a new SGBS locus to ...... impson-Golabi-Behmel syndrome.
@en
prefLabel
Mapping of a new SGBS locus to ...... Simpson-Golabi-Behmel syndrome
@nl
Mapping of a new SGBS locus to ...... impson-Golabi-Behmel syndrome.
@ast
Mapping of a new SGBS locus to ...... impson-Golabi-Behmel syndrome.
@en
P2093
P2860
P356
P1476
Mapping of a new SGBS locus to ...... impson-Golabi-Behmel syndrome.
@en
P2093
L M Brzustowicz
R Weksberg
P2860
P304
P356
10.1086/302527
P407
P577
1999-09-01T00:00:00Z