American journal of medical genetics. Part A
Growth Standards for Children With Smith-Magenis Syndrome (SMS).
Julie Hoover-Fong, John McGready, Leah Fleming, Kerry Schulze, Folami Duncan, Alexis Leonard, Marie Christine de Blois Boucard, Danilo Moretti-Ferreira, Andrea L Gropman, Wendy J Introne, Ann C M Smith
Published: 202510.1002/ajmg.a.64167
Abstract
Smith-Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid-1 (RAI1) gene either by a pathogenic sequence variant…
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