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[Anhidrotic ectodermal dysplasia (apropos of 3 families). Abnormal hair, a sign of heterozygosity?].
J Genet Hum. 1983 Dec; 31(4):279-93.JG

Abstract

The authors report three cases of anidrotic ectodermal dysplasia with an X-linked form. Two cases are sporadic forms, followed up during ten years; the third case is a familial form followed-up through six generations. With their personal cases, the authors insist on the repercussions in the everyday life; they report the signs which must search for an heterozygosis among the females of this families: hypoidrosis, hypodontia, hair shaft abnormalities under polarized light, special look of the face of those females who are alike sometimes wonderfully.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

fre

PubMed ID

6663288

Citation

Le Marec, B, et al. "[Anhidrotic Ectodermal Dysplasia (apropos of 3 Families). Abnormal Hair, a Sign of Heterozygosity?]." Journal De Genetique Humaine, vol. 31, no. 4, 1983, pp. 279-93.
Le Marec B, Roussey M, Chevrant-Breton J, et al. [Anhidrotic ectodermal dysplasia (apropos of 3 families). Abnormal hair, a sign of heterozygosity?]. J Genet Hum. 1983;31(4):279-93.
Le Marec, B., Roussey, M., Chevrant-Breton, J., Segalen, J., Bourdinière, J., & Sénécal, J. (1983). [Anhidrotic ectodermal dysplasia (apropos of 3 families). Abnormal hair, a sign of heterozygosity?]. Journal De Genetique Humaine, 31(4), 279-93.
Le Marec B, et al. [Anhidrotic Ectodermal Dysplasia (apropos of 3 Families). Abnormal Hair, a Sign of Heterozygosity?]. J Genet Hum. 1983;31(4):279-93. PubMed PMID: 6663288.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Anhidrotic ectodermal dysplasia (apropos of 3 families). Abnormal hair, a sign of heterozygosity?]. AU - Le Marec,B, AU - Roussey,M, AU - Chevrant-Breton,J, AU - Segalen,J, AU - Bourdinière,J, AU - Sénécal,J, PY - 1983/12/1/pubmed PY - 1983/12/1/medline PY - 1983/12/1/entrez SP - 279 EP - 93 JF - Journal de genetique humaine JO - J Genet Hum VL - 31 IS - 4 N2 - The authors report three cases of anidrotic ectodermal dysplasia with an X-linked form. Two cases are sporadic forms, followed up during ten years; the third case is a familial form followed-up through six generations. With their personal cases, the authors insist on the repercussions in the everyday life; they report the signs which must search for an heterozygosis among the females of this families: hypoidrosis, hypodontia, hair shaft abnormalities under polarized light, special look of the face of those females who are alike sometimes wonderfully. SN - 0021-7743 UR - https://www.unboundmedicine.com/medline/citation/6663288/[Anhidrotic_ectodermal_dysplasia__apropos_of_3_families___Abnormal_hair_a_sign_of_heterozygosity]_ L2 - http://www.diseaseinfosearch.org/result/2437 DB - PRIME DP - Unbound Medicine ER -