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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Verloes, A, Aymé, S, Gambarelli, D, Gonzales, M, Le Merrer, M, Mulliez, N, Philip, N, Roume, J
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1991
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016846/
https://ncbi.nlm.nih.gov/pubmed/1865466
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