Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review
Author:
Affiliation:
1. Universidade Estadual de Campinas, Brazil
Publisher
FapUNIFESP (SciELO)
Subject
Genetics,Molecular Biology
Link
http://www.scielo.br/pdf/gmb/v28n2/a01v28n2.pdf
Reference40 articles.
1. Two forms of cutis laxa presenting in the newborn period;Agha A;Acta Paediatr Scand,1978
2. Gerodermia osteodysplastica and wrinkly skin syndrome: Are they the same?;Al-Gazali, LI;Am J Med Genet,2001
3. Gerodermia osteodysplastica in a Bedouin sibship: Further delineation of the syndrome;Al-Torki NA;Clin Dysmorphol,1997
4. Congenital cutis laxa with retardation of growth and motor development: A recessive disorder of connective tissue with male lethality;Allanson J;Clin Genet,1986
5. Neurologic involvement in a child with the wrinkly skin syndrome;Azuri J;Am J Med Genet,1999
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2. Whole Exome Sequencing Identifies a Homozygous PYCR1 Missense Variant in a Patient with Autosomal Recessive Cutis Laxa Type 2B: A Case Report;Journal of Comprehensive Pediatrics;2019-10-16
3. Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2;European Journal of Medical Genetics;2013-06
4. Orthodontic treatment for a patient with congenital cutis laxa;American Journal of Orthodontics and Dentofacial Orthopedics;2009-08
5. Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2;The American Journal of Human Genetics;2009-07
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