Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
Sun, Yu
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. [electronic resource] - American journal of human genetics Jul 2010 - 146-53 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2010.06.008 doi
Adult
Bone Diseases, Developmental--complications
Bone Neoplasms--complications
Child, Preschool
Contractile Proteins--genetics
Female
Fibroma--complications
Filamins
Genetic Association Studies
Genetic Diseases, X-Linked--genetics
Humans
Infant
Infant, Newborn
Male
Microfilament Proteins--genetics
Mutation
Neoplasm Recurrence, Local
Pedigree
Pigmentation Disorders--complications
Skin Pigmentation
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. [electronic resource] - American journal of human genetics Jul 2010 - 146-53 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2010.06.008 doi
Adult
Bone Diseases, Developmental--complications
Bone Neoplasms--complications
Child, Preschool
Contractile Proteins--genetics
Female
Fibroma--complications
Filamins
Genetic Association Studies
Genetic Diseases, X-Linked--genetics
Humans
Infant
Infant, Newborn
Male
Microfilament Proteins--genetics
Mutation
Neoplasm Recurrence, Local
Pedigree
Pigmentation Disorders--complications
Skin Pigmentation