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Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics. (3)
Coffin-Siris syndrome (OMIM#135900) is a multiple congenital anomaly syndrome classically characterized by hypo- or aplasia of the fifth digit nails or phalanges, as well as coarse facial features, sparse scalp hair, and moderate to severe cognitive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2f6a24fc2c81548268c842f060bf0ef5
https://pubmed.ncbi.nlm.nih.gov/25169447
https://pubmed.ncbi.nlm.nih.gov/25169447
Publikováno v:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Sep2014, Vol. 166C Issue 3, p252-256, 5p