Literature DB >> 3669051

Homozygosity in piebald trait.

M A Hultén1, M M Honeyman, A J Mayne, M J Tarlow.   

Abstract

A severely affected child born to consanguineous parents is interpreted as being a homozygote for the dominantly inherited piebald trait. The striking phenotypic difference between the parents and the child implies intermediate inheritance of this condition, and the family also illustrates that consanguinity should not always be taken to indicate genetic heterogeneity and recessive inheritance.

Entities:  

Mesh：

Year:  1987        PMID： 3669051      PMCID： PMC1050271          DOI： 10.1136/jmg.24.9.568

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

1.  A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.

Authors:  P J WAARDENBURG
Journal:  Am J Hum Genet       Date:  1951-09       Impact factor: 11.025

2.  Waardenburg's syndrome associated with total aganglionosis.

Authors:  P A Farndon; A Bianchi
Journal:  Arch Dis Child       Date:  1983-11       Impact factor: 3.791

3.  Dominance and homozygosity in man.

Authors:  R M Pauli
Journal:  Am J Med Genet       Date:  1983-12

4.  Dominance and homozygosity in man.

Authors:  K Hirschhorn
Journal:  Am J Med Genet       Date:  1984-07

5.  White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome.

Authors:  K N Shah; S J Dalal; M P Desai; P N Sheth; N C Joshi; L M Ambani
Journal:  J Pediatr       Date:  1981-09       Impact factor: 4.406

6.  Genetic heterogeneity in the Waardenburg syndrome.

Authors:  S Arias
Journal:  Birth Defects Orig Artic Ser       Date:  1971-03

7.  Partial albinism.

Authors:  D E Comings; G F Odland
Journal:  JAMA       Date:  1966-02-14       Impact factor: 56.272

8.  Pigmentary disorders in association with congenital deafness.

Authors:  W B Reed; V M Stone; E Boder; L Ziprkowski
Journal:  Arch Dermatol       Date:  1967-02

Review 9.  Heterogeneity in Waardenburg syndrome.

Authors:  M J Hageman; J W Delleman
Journal:  Am J Hum Genet       Date:  1977-09       Impact factor: 11.025
  9 in total
  9 in total

Review 1.  Waardenburg syndrome.

Authors:  A P Read; V E Newton
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

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

Authors:  R A Fleischman; D L Saltman; V Stastny; S Zneimer
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-01       Impact factor: 11.205

Review 3.  The molecular basis of genetic dominance.

Authors:  A O Wilkie
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

4.  Steel mutant mice are deficient in hippocampal learning but not long-term potentiation.

Authors:  B Motro; J M Wojtowicz; A Bernstein; D van der Kooy
Journal:  Proc Natl Acad Sci U S A       Date:  1996-03-05       Impact factor: 11.205

Review 5.  The c-kit receptor, stem cell factor, and mast cells. What each is teaching us about the others.

Authors:  S J Galli; M Tsai; B K Wershil
Journal:  Am J Pathol       Date:  1993-04       Impact factor: 4.307

6.  Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse.

Authors:  C Foy; V Newton; D Wellesley; R Harris; A P Read
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

7.  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

8.  A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?

Authors:  A N Akarsu; O Akhan; B S Sayli; U Sayli; G Baskaya; M Sarfarazi
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

Review 9.  Stem cell factor, a novel cutaneous growth factor for mast cells and melanocytes.

Authors:  J Grabbe; P Welker; E Dippel; B M Czarnetzki
Journal:  Arch Dermatol Res       Date:  1994       Impact factor: 3.017
  9 in total

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