Discriminative features in three autosomal recessive cutis laxa syndromes: Cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica

• Main Authors: Kariminejad, A, Afroozan, F, Bozorgmehr, B, Ghanadan, A, Akbaroghli, S, Khorshid, H.R.K, Mojahedi, F, Setoodeh, A, Loh, A, Tan, Y.X, Escande-Beillard, N, Malfait, F, Reversade, B, Gardeitchik, T, Morava, E
• 其他作者: PAEDIATRICS
• 格式: Review
• 出版: MDPI 2020
• 主題: autosomal recessive cutis laxa 2a; autosomal recessive cutis laxa 2b; cataract; cognition; congenital hip dislocation; cutis laxa; geroderma osteodysplastica; human; lipodystrophy; long philtrum; microcephaly; muscle hypotonia; osteopenia; palpebral fissure; phenotype; Review; short stature; wrinkle; adult; Bone Diseases; case report; child; differential diagnosis; dwarfism; female; infant; male; preschool child; Skin Diseases, Genetic; syndrome; Adult; Child; Child, Preschool; Cutis Laxa; Diagnosis, Differential; Dwarfism; Female; Humans; Infant; Male; Phenotype; Syndrome
• 在線閱讀: https://scholarbank.nus.edu.sg/handle/10635/183539
• 機構: National University of Singapore

10.3390/ijms18030635