A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement.

Mégarbané, André

A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement. [electronic resource] - American journal of medical genetics. Part A Jul 2006 - 1491-6 p. digital

Publication Type: Case Reports; Journal Article

1552-4825

10.1002/ajmg.a.31316 doi


Abnormalities, Multiple--genetics
Adolescent
Adult
Bone Diseases, Developmental--genetics
Bone and Bones--abnormalities
Consanguinity
Eye Abnormalities--genetics
Female
Genes, Recessive
Growth Disorders--genetics
Humans
Male
Pedigree
Phenotype
Retina--abnormalities
Syndrome