Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.

Pauline MarzinBriac ThierryAndrea DancasiusAnne CavauCaroline MichotSophie RondeauGeneviève BaujatGilles PhanMaryse BonnièreMuriel Le BourgeoisDiala KhraicheZagorka PejinDamien BonnetChristophe DelacourtValérie Cormier-Daire

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

GD and AD are progressive multisystemic disorders with life-threatening complications associated with specific genotype. A careful multidisciplinary follow-up is needed.

Keyphrases

multiple sclerosis
risk factors
clinical practice