Clouston syndrome: an ultrastructural study

Victor Escobar, Lawrence I. Goldblatt, David Bixler, David Weaver

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

A previously undescribed French-Canadian family affected with Clouston Syndrome (Hypohidrotic Ectodermal Dysplasia) is described. Ultrastructural study of the hair shows disorganization of the hair fibrils with loss of the cuticular cortex. The SEM findings are consistent with the model, suggesting a biochemical defect in the keratin of the integumentary system.

Original languageEnglish (US)
Pages (from-to)140-146
Number of pages7
JournalClinical Genetics
Volume24
Issue number2
DOIs
StatePublished - Aug 1983

Fingerprint

Ectodermal Dysplasia
Hair
Integumentary System
Anhidrotic Ectodermal Dysplasia 1
Keratins

Keywords

  • Clouston syndrome
  • Hypohideotic Ectodermac Dysplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Clouston syndrome : an ultrastructural study. / Escobar, Victor; Goldblatt, Lawrence I.; Bixler, David; Weaver, David.

In: Clinical Genetics, Vol. 24, No. 2, 08.1983, p. 140-146.

Research output: Contribution to journalArticle

Escobar, Victor ; Goldblatt, Lawrence I. ; Bixler, David ; Weaver, David. / Clouston syndrome : an ultrastructural study. In: Clinical Genetics. 1983 ; Vol. 24, No. 2. pp. 140-146.
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