Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): A case report and review of the literature

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Davidson, Tom B ^a,c   Sanchez Lara, Pedro A ^a,b   Randolph, Linda M ^a,b   Krieger, Mark D ^a,b   Wu, Shi Qi ^a,b   Panigrahy, Ashok ^a,b   Shimada, Hiroyuki ^a,b   Erdreich Epstein, Anat ^a,b  

^a CHILDREN S HOSPITAL LOS ANGELES   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c MATTEL CHILDREN S HOSPITAL   (United States)

Author keywords

Chromosome 22q12.2; Cleft palate; MN1; NF2; Pierre robin sequence

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CLEFT PALATE; CRANIOFACIAL MALFORMATION; DNA MICROARRAY; FACE DEVELOPMENT; FEMALE; GENE DELETION; HEARING LOSS; HEMATOPOIESIS; HUMAN; HUMAN TISSUE; HYPERTELORISM; KARYOTYPE 46,XX; MENINGIOMA; MENTAL DEFICIENCY; MICROCEPHALY; MICROGNATHIA; MYELOID LEUKEMIA; NEURILEMOMA; NEUROFIBROMATOSIS; PIERRE ROBIN SYNDROME; SKULL DEVELOPMENT; SPINE TUMOR; ADULT; ANIMAL; BASE PAIRING; CHILD; CHROMOSOME 22; CHROMOSOME DELETION; CONGENITAL MALFORMATION; FACIES; GENETICS; INFANT; MAXILLOFACIAL DEVELOPMENT; MOUSE; NEWBORN; PATHOLOGY; PREGNANCY; PRESCHOOL CHILD; REVIEW; SKULL;

MURINAE; MUS;

MN1 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

ADOLESCENT; ADULT; ANIMALS; BASE PAIRING; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CLEFT PALATE; FACIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MAXILLOFACIAL DEVELOPMENT; MICE; NEUROFIBROMATOSIS 2; PIERRE ROBIN SYNDROME; PREGNANCY; SKULL; TUMOR SUPPRESSOR PROTEINS;

EID: 84862782909     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-19     Document Type: Article

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