Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.
Rodriguez, Jayson D
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3. [electronic resource] - American journal of medical genetics. Part A Mar 2010 - 713-7 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.33208 doi
Abnormalities, Multiple--genetics
Child, Preschool
Chromosome Deletion
Chromosomes, Human, X--genetics
Coenzyme A Ligases--genetics
Collagen Type IV--genetics
DNA Mutational Analysis
Facies
Female
Humans
In Situ Hybridization, Fluorescence
Language Development Disorders--genetics
Male
X-Linked Intellectual Disability--genetics
Nephritis, Hereditary--genetics
Pedigree
Phenotype
Long-Chain-Fatty-Acid-CoA Ligase
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3. [electronic resource] - American journal of medical genetics. Part A Mar 2010 - 713-7 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.33208 doi
Abnormalities, Multiple--genetics
Child, Preschool
Chromosome Deletion
Chromosomes, Human, X--genetics
Coenzyme A Ligases--genetics
Collagen Type IV--genetics
DNA Mutational Analysis
Facies
Female
Humans
In Situ Hybridization, Fluorescence
Language Development Disorders--genetics
Male
X-Linked Intellectual Disability--genetics
Nephritis, Hereditary--genetics
Pedigree
Phenotype
Long-Chain-Fatty-Acid-CoA Ligase