TY  - GEN
AU  - Sun,Yu
AU  - Almomani,Rowida
AU  - Aten,Emmelien
AU  - Celli,Jacopo
AU  - van der Heijden,Jaap
AU  - Venselaar,Hanka
AU  - Robertson,Stephen P
AU  - Baroncini,Anna
AU  - Franco,Brunella
AU  - Basel-Vanagaite,Lina
AU  - Horii,Emiko
AU  - Drut,Ricardo
AU  - Ariyurek,Yavuz
AU  - den Dunnen,Johan T
AU  - Breuning,Martijn H
TI  - Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene
SN  - 1537-6605
PY  - 2010///0728
KW  - Adult
KW  - Bone Diseases, Developmental
KW  - complications
KW  - Bone Neoplasms
KW  - Child, Preschool
KW  - Contractile Proteins
KW  - genetics
KW  - Female
KW  - Fibroma
KW  - Filamins
KW  - Genetic Association Studies
KW  - Genetic Diseases, X-Linked
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Microfilament Proteins
KW  - Mutation
KW  - Neoplasm Recurrence, Local
KW  - Pedigree
KW  - Pigmentation Disorders
KW  - Skin Pigmentation
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2010.06.008
ER  -