Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family.

doi:10.1002/ajmg.1320300131

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Article

Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family.

American journal of medical genetics - 1 Jan 2000

Opitz J M, Herrmann J, Gilbert E F, Matalon R

Abstract excerpt

Here we report a follow-up on a boy born in 1983 into a family with presumed Simpson-Golabi-Behmel syndrome and first reported as patient 3 by Opitz [1984] under the designation "Golabi-Rosen" syndrome. The patient died at 25 months without having attained any measure of psychomotor development o...

Topics

Abnormalities, Multiple
Child, Preschool
Genetic Linkage
Gigantism
Humans
Intellectual Disability
Male
Phenotype
Syndrome
X Chromosome

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