Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (Smith-Lemli-Opitz...

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Enregistré dans:
Détails bibliographiques
Publié dans:J Med Genet
Auteurs principaux: Verloes, A, Aymé, S, Gambarelli, D, Gonzales, M, Le Merrer, M, Mulliez, N, Philip, N, Roume, J
Format: Artigo
Langue:Inglês
Publié: BMJ Publishing Group 1991
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016846/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1865466/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.5.297
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