NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay

American Journal of Medical Genetics, Part A

Volumn 161, Issue 2, 2013, Pages 377-381

  Al Kateb, Hussam ^a   Shimony, Joshua S ^b   Vineyard, Marisa ^a   Manwaring, Linda ^a   Kulkarni, Shashikant ^a   Shinawi, Marwan ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS RECEPTOR; NUCLEAR RECEPTOR NR2F1; UNCLASSIFIED DRUG;

AMBLYOPIA; ATTENTION DEFICIT DISORDER; CASE REPORT; CHILD; CHROMOSOME 5Q; CHROMOSOME DELETION; CLINICAL EXAMINATION; CONDUCTION DEAFNESS; CONVERGENT STRABISMUS; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FAM172A GENE; FEEDING DISORDER; FLJ42709 GENE; FLUORESCENCE IN SITU HYBRIDIZATION; GAIT DISORDER; GASTROESOPHAGEAL REFLUX; GASTROSTOMY; GENE; GENE DELETION; GENETIC ASSOCIATION; HAPLOINSUFFICIENCY; HUMAN; KARYOTYPING; LEARNING DISORDER; LETTER; MALE; MIR2277 GENE; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NR2F1 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCUPATIONAL THERAPY; OPTIC NERVE ATROPHY; PHENOTYPE; PHYSIOTHERAPY; POU5F2 GENE; PRIORITY JOURNAL; PYELOPLASTY; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; STRABISMUS SURGERY; URETEROPELVIC JUNCTION OBSTRUCTION;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; COUP TRANSCRIPTION FACTOR I; DEVELOPMENTAL DISABILITIES; HAPLOINSUFFICIENCY; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OPTIC ATROPHY; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84872978049     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35650     Document Type: Letter

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