Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene

American Journal of Medical Genetics, Part A

Volumn 167, Issue 5, 2015, Pages 1047-1053

  Beck, Megan ^a   Peterson, Jess F ^a,b   Mcconnell, Juliann ^c   Mcguire, Marianne ^c   Asato, Miya ^c   Losee, Joseph E ^c   Surti, Urvashi ^a,b,d   Madan Khetarpal, Suneeta ^c   Rajkovic, Aleksandar ^a,b,d   Yatsenko, Svetlana A ^b,d  

^a UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^d UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

Author keywords

22q12.1; 22q12.2 q12.3; Array comparative genomic hybridization (aCGH); CHEK2; Cleft palate; Microdeletion; MN1; Neurofibromatosis type 2; NF2

Indexed keywords

AGGRESSION; ANXIETY; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 22Q; CHROMOSOME REARRANGEMENT; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; EAR MALFORMATION; EYE MALFORMATION; FEEDING DISORDER; FEMALE; GASTROESOPHAGEAL REFLUX; GENE; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTELLECTUAL IMPAIRMENT; LIP MALFORMATION; MICROARRAY ANALYSIS; MN1 GENE; MUSCLE WEAKNESS; NOSE MALFORMATION; OLIGOHYDRAMNIOS; OTITIS MEDIA; PRIORITY JOURNAL; SKULL MALFORMATION; SYNDACTYLY; TACHYPNEA; TOE MALFORMATION; ADULT; ANIMAL; CHROMOSOME 22; CHROMOSOME DELETION; GENETICS; INFANT; MALE; MOUSE; PATHOPHYSIOLOGY; PEDIGREE; PRESCHOOL CHILD;

MERLIN; MN1 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

ADULT; ANIMALS; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CLEFT PALATE; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; INFANT; MALE; MICE; NEUROFIBROMIN 2; PEDIGREE; TUMOR SUPPRESSOR PROTEINS;

EID: 84927737330     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36839     Document Type: Article

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