laxa NGS panel ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4, PYCR1 Del Dup NGS Cutis laxa, autosomal dominant 1 ELN Del Dup NGS Cutis laxa, autosomal
[ctgt.net]
laxa, autosomal recessive, 1B (ARCL1B) [MIM: 614437 ] EFNB1 P98172 non-pleiotropic Craniofrontonasal syndrome (CFNS) [MIM: 304110 ] EFTUD2 Q15029 non-pleiotropic Mandibulofacial
[sbg.bio.ic.ac.uk]
laxa, autosomal dominant Cutis laxa, x-linked Cystic fibrosis Cystinosis Cystinosis, ocular nonnephropathic Czech dysplasia metatarsal type Danon disease Deafness, autosomal
[pentacorelab.hu]