TY  - GEN
AU  - Turner,G
AU  - Lower,K M
AU  - White,S M
AU  - Delatycki,M
AU  - Lampe,A K
AU  - Wright,M
AU  - Smith,J Clayton
AU  - Kerr,B
AU  - Schelley,S
AU  - Hoyme,H E
AU  - De Vries,B B A
AU  - Kleefstra,T
AU  - Grompe,M
AU  - Cox,B
AU  - Gecz,J
AU  - Partington,M
TI  - The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations
SN  - 0009-9163
PY  - 2004///1122
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Failure to Thrive
KW  - Female
KW  - Genetic Diseases, X-Linked
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Muscle Hypotonia
KW  - Musculoskeletal Abnormalities
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Syndrome
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/j.0009-9163.2004.00215.x
ER  -