Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs.

Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs.

Item
http://www.wikidata.org/entity/Q36940673
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical featuresMowat-Wilson syndromeHirschsprung disease and other enteric dysganglionoses.Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism?Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome.Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.Asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia in a male infant
P2860

Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs.

Item
http://www.wikidata.org/entity/Q36940673
description
1991 nî lūn-bûn
@nan
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
1991年论文
@zh
1991年论文
@zh-cn
name
Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs.
@en
type
label
Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs.
@en
prefLabel
Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs.
@en
P2093
P304
P31
P356
P433
P478
P577
P698