TY  - GEN
AU  - Rodriguez,Jayson D
AU  - Bhat,Shambhu S
AU  - Meloni,Ilaria
AU  - Ladd,Sydney
AU  - Leslie,Nancy D
AU  - Doyne,Emanuel O
AU  - Renieri,Alessandra
AU  - Dupont,Barbara R
AU  - Stevenson,Roger E
AU  - Schwartz,Charles E
AU  - Srivastava,Anand K
TI  - Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3
SN  - 1552-4833
PY  - 2010///0412
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Child, Preschool
KW  - Chromosome Deletion
KW  - Chromosomes, Human, X
KW  - Coenzyme A Ligases
KW  - Collagen Type IV
KW  - DNA Mutational Analysis
KW  - Facies
KW  - Female
KW  - Humans
KW  - In Situ Hybridization, Fluorescence
KW  - Language Development Disorders
KW  - Male
KW  - X-Linked Intellectual Disability
KW  - Nephritis, Hereditary
KW  - Pedigree
KW  - Phenotype
KW  - Long-Chain-Fatty-Acid-CoA Ligase
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.33208
ER  -