Ara
Toplam kayıt 1, listelenen: 1-1
Bi-Allelic Mutations In Klhl7 Cause A Crisponi/Ciss1-Like Phenotype Associated With Early-Onset Retinitis Pigmentosa
(Cell Press, 2016)
Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high neonatal lethality, associated with the following main clinical ...