(Q38487010)

3 September 2017

De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation (English)

1 reference

3 September 2017

1 reference

A Radha Ramadevi

1

1 reference

3 September 2017

Usha Naik

2

1 reference

3 September 2017

Usha Dutta

3

1 reference

3 September 2017

Srikanth

4

1 reference

3 September 2017

K Prabhakara

5

1 reference

3 September 2017

1 November 2002

1 reference

American Journal of Medical Genetics Part A

3 September 2017

1 reference

3 September 2017

113

1 reference

3 September 2017

2

1 reference

3 September 2017

190-192

1 reference

A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p).

3 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10739

Deletion of the c-kit protooncogene in the human developmental defect piebald trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10739

Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8;4).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10739

Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10739

Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10739

Paternal pericentric inversion of chromosome 4 as a cause of recurrent pregnancy loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10739

Tentative assignment of piebald trait gene to chromosome band 4q12

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10739

Three novel mutations of the proto-oncogene KIT cause human piebaldism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10739

Pericentric inversion and partial monosomy 4q associated with congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10739

Short rib-polydactyly syndrome and pericentric inversion of chromosome 4

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10739

Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10739

21 January 2018

Identifiers

DOI

10.1002/AJMG.10739

1 reference

release_y5kaqfvlkvcuvofbubhpczzvha

3 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/y5kaqfvlkvcuvofbubhpczzvha

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference