MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking
- PMID: 20954239
- DOI: 10.1002/ajmg.a.33712
MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking
Similar articles
-
Symmetrical absence of hands and feet with bilateral radius agenesia: case report of a new entity?Clin Dysmorphol. 2006 Oct;15(4):235-237. doi: 10.1097/01.mcd.0000220611.63025.90. Clin Dysmorphol. 2006. PMID: 16957481 Review. No abstract available.
-
[Proteus syndrome].Arch Fr Pediatr. 1990 Jun-Jul;47(6):441-4. Arch Fr Pediatr. 1990. PMID: 2206106 Review. French.
-
Congenital cleft hand and cleft foot.Indian Pediatr. 1991 May;28(5):549-51. Indian Pediatr. 1991. PMID: 1752684 No abstract available.
-
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.Am J Med Genet A. 2010 Apr;152A(4):947-9. doi: 10.1002/ajmg.a.33325. Am J Med Genet A. 2010. PMID: 20358606
-
B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?J Med Genet. 2001 Jul;38(7):488-93. doi: 10.1136/jmg.38.7.488. J Med Genet. 2001. PMID: 11476068 Free PMC article. No abstract available.
Cited by
-
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.Hum Genet. 2012 Nov;131(11):1761-73. doi: 10.1007/s00439-012-1197-8. Epub 2012 Jul 8. Hum Genet. 2012. PMID: 22773132
-
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.Eur J Hum Genet. 2014 Jul;22(7):888-95. doi: 10.1038/ejhg.2013.154. Epub 2013 Aug 21. Eur J Hum Genet. 2014. PMID: 23963297 Free PMC article.
-
Metabolic cutis laxa syndromes.J Inherit Metab Dis. 2011 Aug;34(4):907-16. doi: 10.1007/s10545-011-9305-9. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431621 Free PMC article. Review.
-
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27. Am J Hum Genet. 2015. PMID: 26320891 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Miscellaneous