The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.
Turner, G
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. [electronic resource] - Clinical genetics Mar 2004 - 226-32 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0009-9163
10.1111/j.0009-9163.2004.00215.x doi
Abnormalities, Multiple--genetics
Failure to Thrive--genetics
Female
Genetic Diseases, X-Linked
Humans
Intellectual Disability--genetics
Male
Muscle Hypotonia--genetics
Musculoskeletal Abnormalities--genetics
Mutation
Pedigree
Phenotype
Syndrome
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. [electronic resource] - Clinical genetics Mar 2004 - 226-32 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0009-9163
10.1111/j.0009-9163.2004.00215.x doi
Abnormalities, Multiple--genetics
Failure to Thrive--genetics
Female
Genetic Diseases, X-Linked
Humans
Intellectual Disability--genetics
Male
Muscle Hypotonia--genetics
Musculoskeletal Abnormalities--genetics
Mutation
Pedigree
Phenotype
Syndrome