Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosum.

The association of two rare hereditary disorders, trichothiodystrophy (TTD) and xeroderma pigmentosum (XP), was found in four patients from three families, apparently unrelated but living in the same geographical area. In order to test the hypothesis of a common ancestor, consanguinity within and am...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:J Med Genet
Auteurs principaux: Nuzzo, F, Zei, G, Stefanini, M, Colognola, R, Santachiara, A S, Lagomarsini, P, Marinoni, S, Salvaneschi, L
Format: Artigo
Langue:Inglês
Publié: BMJ Publishing Group 1990
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016874/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2308151/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.27.1.21
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires