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searching for Cutis laxa 14 found (44 total)

alternate case: cutis laxa

FBLN5 (1,401 words) [view diff] exact match in snippet view article find links to article

a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa". Human Molecular Genetics. 11 (18): 2113–8. doi:10.1093/hmg/11.18.2113

ATP6V0A2 (838 words) [view diff] exact match in snippet view article find links to article

component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. GRCh38: Ensembl release 89: ENSG00000185344

EFEMP2 (814 words) [view diff] exact match in snippet view article find links to article

KH, et al. (2006). "Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome". Am. J. Hum. Genet. 78 (6): 1075–80. doi:10.1086/504304. PMC 1474103

PYCR1 (622 words) [view diff] exact match in snippet view article find links to article

B, Chng SC, Li Y, et al. (September 2009). "Mutations in PYCR1 cause cutis laxa with progeroid features". Nature Genetics. 41 (9): 1016–21. doi:10.1038/ng

Gamma-glutamyl carboxylase (1,001 words) [view diff] exact match in snippet view article find links to article

De Paepe A (March 2007). "Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic

Menkes disease (1,552 words) [view diff] exact match in snippet view article find links to article

result in fractures. Occipital horn syndrome (sometimes called X-linked cutis laxa or Ehlers-Danlos type 9) is a mild form of Menkes syndrome that begins

PLAID syndrome (711 words) [view diff] exact match in snippet view article find links to article

Nejentsev S (2019) Novel PLCG2 mutation in a patient With APLAID and cutis laxa. Front Immunol 9:2863 Ombrello MJ, Remmers EF, Sun G, et al (2012) Cold

Congenital disorder of glycosylation (3,730 words) [view diff] exact match in snippet view article find links to article

Van Maldergem L, Mundlos S (January 2008). "Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2". Nature

List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article

176450; MNX1 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities; 613177; LTBP4 Cutis laxa, AD; 123700; ELN Cutis laxa, autosomal

Anetoderma (1,550 words) [view diff] exact match in snippet view article find links to article

they create sizable atrophic regions that are identical to acquired cutis laxa. They could unite to encircle sizable regions, particularly along the

Laminin, beta 1 (1,257 words) [view diff] exact match in snippet view article find links to article

"Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype". Hum Genet. 87 (3): 317–9. doi:10.1007/bf00200911

Aldehyde dehydrogenase 18 family, member A1 (1,678 words) [view diff] case mismatch in snippet view article find links to article

Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa". American Journal of Human Genetics. 97 (3): 483–92. doi:10.1016/j.ajhg

Lysyl oxidase (3,147 words) [view diff] exact match in snippet view article find links to article

Thomas R, Trompeter R, Duffy P, Price R, Pope FM (Feb 1997). "Congenital cutis laxa and lysyl oxidase deficiency". Clinical Genetics. 51 (2): 109–14. doi:10

List of conditions with craniosynostosis (2,779 words) [view diff] exact match in snippet view article find links to article

(Concept Id: C0795915)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06. "Cutis laxa, autosomal recessive, type 2E (Concept Id: C5561944) - MedGen - NCBI"