Literature DB >> 14939114

Familial white skin spotting (piebaldness) ("partial albinism") with white forelock.

J V COOKE.   

Abstract

Entities:  

Keywords:  HAIR/diseases; PIGMENTATION

Mesh：

Year:  1952        PMID： 14939114     DOI： 10.1016/s0022-3476(52)80022-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  7 in total

1.  Dominant piebald trait (white forelock and leukoderma) with neurological impairment.

Authors:  M A Telfer; M Sugar; E A Jaeger; J Mulcahy
Journal:  Am J Hum Genet       Date:  1971-07       Impact factor: 11.025

2.  Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion.

Authors:  S J Funderburk; B F Crandall
Journal:  Am J Hum Genet       Date:  1974-11       Impact factor: 11.025

3.  Expansion and contraction of hypomelanotic areas in human piebaldism.

Authors:  B K Davis; L D Verdol
Journal:  Hum Genet       Date:  1976-10-28       Impact factor: 4.132

4.  Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.

Authors:  L B Giebel; R A Spritz
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-01       Impact factor: 11.205

5.  Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.

Authors:  R A Spritz; S A Holmes; R Ramesar; J Greenberg; D Curtis; P Beighton
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

6.  Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.

Authors:  R A Spritz; L B Giebel; S A Holmes
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

7.  Albinism, partial albinism, and vitiligo.

Authors:  T P KUGELMAN; A B LERNER
Journal:  Yale J Biol Med       Date:  1961-06
  7 in total

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