Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 8, 2012, Pages 1891-1896

  Hosoki, Kana ^a   Ohta, Tohru ^b   Natsume, Jun ^c   Imai, Sumiko ^d   Okumura, Akihisa ^e   Matsui, Takeshi ^f   Harada, Naoki ^f   Bacino, Carlos A ^g   Scaglia, Fernando ^g   Jones, Jeremy Y ^h   Niikawa, Norio ^b   Saitoh, Shinji ^a,i  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

^c NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d Social Insurance Sagamino Hospital   (Japan)

^e JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f LSI MEDIENCE CORPORATION   (Japan)

^g Texas Children's Hospital   (United States)

^h TEXAS CHILDREN S HOSPITAL   (United States)

ⁱ NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

Author keywords

5q31.3 deletion syndrome; Neonatal hypotonia; Neuregulin 2; Purine rich element binding protein A

Indexed keywords

NITRAZEPAM; OXYGEN; VALPROIC ACID;

5Q31.3 MICRODELETION SYNDROME; APNEA; ARTICLE; BRAIN ATROPHY; CASE REPORT; CHILD; CHROMOSOME DELETION 5; CONTROLLED STUDY; COPY NUMBER VARIATION; CRYPTORCHISM; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEEDING DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRONTAL GYRUS; GENE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HYPERREFLEXIA; HYPOVENTILATION; INTELLECTUAL IMPAIRMENT; LARYNGOMALACIA; MALE; MICROARRAY ANALYSIS; MYELINATION; NEUREGULIN 2 GENE; NEWBORN; NEWBORN HYPOXIA; NEWBORN INTENSIVE CARE; NUCLEAR MAGNETIC RESONANCE IMAGING; OXYGEN THERAPY; PRESCHOOL CHILD; PRIORITY JOURNAL; PURINE RICH ELEMENT BINDING PROTEIN A GENE; RESPIRATORY DISTRESS; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TEMPORAL LOBE; TONIC SEIZURE; TUBE FEEDING; WHITE MATTER;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MAGNETIC RESONANCE IMAGING; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; SYNDROME;

MUS;

EID: 84864138914     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35439     Document Type: Article

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