Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers.

Plomp, A S

Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers. [electronic resource] - Genetic counseling (Geneva, Switzerland) 1995 - 259-68 p. digital

Publication Type: Case Reports; Journal Article

1015-8146


Abnormalities, Multiple--genetics
Adolescent
Adult
Child
Dwarfism--genetics
Facial Bones--abnormalities
Facies
Female
Genetic Carrier Screening
Hand Deformities, Congenital--genetics
Humans
Infant
Intellectual Disability--genetics
Male
Middle Aged
Phenotype
Scoliosis--genetics
Sex Chromosome Aberrations--genetics
Skull--abnormalities
Syndrome
X Chromosome