Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.

about

Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.

Item

http://www.wikidata.org/entity/Q53029953

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年学术文章

@wuu

2015年学术文章

@zh

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

@zh-hant

name

Total colonic aganglionosis an ...... with Pallister-Hall syndrome.

@en

Total colonic aganglionosis an ...... with Pallister-Hall syndrome.

@nl

type

Item

label

Total colonic aganglionosis an ...... with Pallister-Hall syndrome.

@en

Total colonic aganglionosis an ...... with Pallister-Hall syndrome.

@nl

prefLabel

Total colonic aganglionosis an ...... with Pallister-Hall syndrome.

@en

Total colonic aganglionosis an ...... with Pallister-Hall syndrome.

@nl

P1476

Total colonic aganglionosis an ...... t with Pallister-Hall syndrome

@en

P2093

Elaine H Zackai

http://www.w3.org/2001/XMLSchema#string

Luv Javia

http://www.w3.org/2001/XMLSchema#string

Mindy H Li

http://www.w3.org/2001/XMLSchema#string

Moriah Eberhard

http://www.w3.org/2001/XMLSchema#string

Nahla Khalek

http://www.w3.org/2001/XMLSchema#string

Robert Zimmerman

http://www.w3.org/2001/XMLSchema#string

P2860

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations

Anorectal malformations caused by defects in sonic hedgehog signaling

Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

Hirschprung's disease and imperforate anus in Pallister-Hall syndrome: a new association.

Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.

Total colonic aganglionosis and Hirschsprung's disease: shades of the same or different?

Clinical and genetic differences in total colonic aganglionosis in Hirschsprung's disease.

P304

617-620

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/AJMG.A.36915

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

167A

http://www.w3.org/2001/XMLSchema#string

P50

Pamela A Mudd

P577

2015-01-21T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

25604768

http://www.w3.org/2001/XMLSchema#string