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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Salvato in:
Dettagli Bibliografici
Pubblicato in:J Med Genet
Autori principali: Verloes, A, Aymé, S, Gambarelli, D, Gonzales, M, Le Merrer, M, Mulliez, N, Philip, N, Roume, J
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 1991
Soggetti:
Research Article
Accesso online: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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