Jci_page_head_homepage_01 Jci_page_head_homepage_02
Forbes D. Porter
Published in Volume 110, Issue 6
J Clin Invest. 2002; 110(6):715–724 doi:10.1172/JCI16386
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Phenotypic features of SLOS. (ac) Facial appearance including microcephaly, ptosis, a small upturned nose, and micrognathia. (d) Hand malformations including postaxial polydactyly and a short thumb. (e) Second-third toe syndactyly. (f) Ambiguous genitalia in a 46, XY patient.