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...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Med Genet
Egile Nagusiak: Nuzzo, F, Zei, G, Stefanini, M, Colognola, R, Santachiara, A S, Lagomarsini, P, Marinoni, S, Salvaneschi, L
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Publishing Group 1990
Gaiak:
Research Article
Sarrera elektronikoa: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
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