A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2.

Feng, Jincai

A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2. [electronic resource] - Molecular genetics & genomic medicine 02 2020 - e1096 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

2324-9269

10.1002/mgg3.1096 doi


Child, Preschool
Cutis Laxa--congenital
Hamartoma--genetics
Humans
Male
Microtubule-Associated Proteins--genetics
Mutation, Missense
Phenotype
Skin Abnormalities--genetics