Ectodermal manifestations in Menkes disease

C. M. Moore, R. Howell

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

Hair and skin pigmentation changes are described in males with Menkes disease from birth to 12 years of age and in 28 obligate carrier or at-risk females. Pili torti were observed in all affected males and in 43% of the females studied. The presence of pili torti may be considered a reliable diagnostic feature of the carrier state. Suggestions are given for evaluation of the hair in individuals in Menkes pedigrees.

Original languageEnglish
Pages (from-to)532-540
Number of pages9
JournalClinical Genetics
Volume28
Issue number6
StatePublished - Dec 1 1985
Externally publishedYes

Fingerprint

Menkes Kinky Hair Syndrome
Skin Pigmentation
Carrier State
Pedigree
Parturition
Pili Torti

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Ectodermal manifestations in Menkes disease. / Moore, C. M.; Howell, R.

In: Clinical Genetics, Vol. 28, No. 6, 01.12.1985, p. 532-540.

Research output: Contribution to journalArticle

Moore, CM & Howell, R 1985, 'Ectodermal manifestations in Menkes disease', Clinical Genetics, vol. 28, no. 6, pp. 532-540.
Moore, C. M. ; Howell, R. / Ectodermal manifestations in Menkes disease. In: Clinical Genetics. 1985 ; Vol. 28, No. 6. pp. 532-540.
@article{dd0d92cccab24d75acf65f6795b1eb2d,
title = "Ectodermal manifestations in Menkes disease",
abstract = "Hair and skin pigmentation changes are described in males with Menkes disease from birth to 12 years of age and in 28 obligate carrier or at-risk females. Pili torti were observed in all affected males and in 43{\%} of the females studied. The presence of pili torti may be considered a reliable diagnostic feature of the carrier state. Suggestions are given for evaluation of the hair in individuals in Menkes pedigrees.",
author = "Moore, {C. M.} and R. Howell",
year = "1985",
month = "12",
day = "1",
language = "English",
volume = "28",
pages = "532--540",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "6",

}

TY - JOUR

T1 - Ectodermal manifestations in Menkes disease

AU - Moore, C. M.

AU - Howell, R.

PY - 1985/12/1

Y1 - 1985/12/1

N2 - Hair and skin pigmentation changes are described in males with Menkes disease from birth to 12 years of age and in 28 obligate carrier or at-risk females. Pili torti were observed in all affected males and in 43% of the females studied. The presence of pili torti may be considered a reliable diagnostic feature of the carrier state. Suggestions are given for evaluation of the hair in individuals in Menkes pedigrees.

AB - Hair and skin pigmentation changes are described in males with Menkes disease from birth to 12 years of age and in 28 obligate carrier or at-risk females. Pili torti were observed in all affected males and in 43% of the females studied. The presence of pili torti may be considered a reliable diagnostic feature of the carrier state. Suggestions are given for evaluation of the hair in individuals in Menkes pedigrees.

UR - http://www.scopus.com/inward/record.url?scp=0022338262&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0022338262&partnerID=8YFLogxK

M3 - Article

C2 - 4075564

AN - SCOPUS:0022338262

VL - 28

SP - 532

EP - 540

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 6

ER -