Article
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.
American journal of human genetics - 2 Nov 2017
Writzl Karin, Maver Ales, Kovačič Lidija, Martinez-Valero Paula, Contreras Laura, Satrustegui Jorgina, Castori Marco, Faivre Laurence, Lapunzina Pablo, van Kuilenburg André B P, Radović Slobodanka, Thauvin-Robinet Christel, Peterlin Borut, Del Arco Araceli, Hennekam Raoul C
Abstract excerpt
A series of simplex cases have been reported under various diagnoses sharing early aging, especially evident in congenitally decreased subcutaneous fat tissue and sparse hair, bone dysplasia of the skull and fingers, a distinctive facial gestalt, and prenatal and postnatal growth retardation. For historical reasons, we suggest naming the entity Fontaine syndrome. Exome sequencing of four unrelated affected...
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