Rehder, Helga

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit. [electronic resource] - American journal of medical genetics. Part A 07 2018 - 1559-1568 p. digital

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

1552-4833

10.1002/ajmg.a.38828 doi


Adult
Dwarfism--genetics
Exhibitions as Topic
Facies
Female
Fetal Diseases--genetics
Filamins--genetics
Humans
Male
Middle Aged
Mutation
Osteochondrodysplasias--genetics
Prognosis