Analysis of genotype-phenotype correlations in human holoprosencephaly. - Université de Rennes Accéder directement au contenu
Article Dans Une Revue American Journal of Medical Genetics Part C: Seminars in Medical Genetics Année : 2010

Analysis of genotype-phenotype correlations in human holoprosencephaly.

Résumé

Since the discovery of the first gene causing holoprosencephaly (HPE), over 500 patients with mutations in genes associated with non-chromosomal, non-syndromic HPE have been described, with detailed descriptions available in over 300. Comprehensive clinical analysis of these individuals allows examination for the presence of genotype-phenotype correlations. These correlations allow a degree of differentiation between patients with mutations in different HPE-associated genes and for the application of functional studies to determine intragenic correlations. These early correlations are an important advance in the understanding of the clinical aspects of this disease, and in general argue for continued analysis of the genetic and clinical findings of large cohorts of patients with rare diseases in order to better inform both basic biological insight and care and counseling for affected patients and families.

Domaines

Génétique

Dates et versions

inserm-00461997 , version 1 (08-03-2010)

Identifiants

Citer

Benjamin D. Solomon, Sandra Mercier, Jorge I. Vélez, Daniel Pineda-Alvarez, Adrian Wyllie, et al.. Analysis of genotype-phenotype correlations in human holoprosencephaly.. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010, 154C (1), pp.133-41. ⟨10.1002/ajmg.c.30240⟩. ⟨inserm-00461997⟩
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