Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies.
about
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 geneX-linked mental retardation (XLMR): from clinical conditions to cloned genes.A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.Additional case of craniofacial and digital anomalies as reported by Harrod et al.XLMR genes: update 1996.Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.X-linked mental retardation syndrome: three brothers with the Brooks-Wisniewski-Brown syndrome.How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
P2860
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P2860
Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
Mental retardation, congenital ...... ription and molecular studies.
@en
type
label
Mental retardation, congenital ...... ription and molecular studies.
@en
prefLabel
Mental retardation, congenital ...... ription and molecular studies.
@en
P2093
P356
P1476
Mental retardation, congenital ...... ription and molecular studies.
@en
P2093
Mariman EC
Schoonbrood-Lenssen AM
van Beersum SE
P304
P356
10.1002/AJMG.1320510459
P577
1994-07-01T00:00:00Z