Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL)

American Journal of Medical Genetics, Part A

Volumn 164, Issue 8, 2014, Pages 2079-2083

  Mendelsohn, Bryce A ^a   Pronold, Melissa ^a   Long, Roger ^a   Smaoui, Nizar ^b   Slavotinek, Anne M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b GENEDX   (United States)

Author keywords

Array comparative genomic hybridization; Bone age; Congenital hip dysplasia; Developmental delay; Hypertrichosis; KMT2A; MLL; Short stature; Vesicoureteral reflux; Wiedemann Steiner

Indexed keywords

MIXED LINEAGE LEUKEMIA PROTEIN;

ANTHROPOMETRIC PARAMETERS; APGAR SCORE; ARTICLE; BONE AGE; BRAIN RADIOGRAPHY; BRAIN SIZE; CASE REPORT; CEREBRAL PALSY; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; CORPUS CALLOSUM; DEVELOPMENTAL STAGE; ENTERIC FEEDING; EXON; EXTRACORPOREAL OXYGENATION; FACE DYSMORPHIA; FEMALE; GASTROESOPHAGEAL REFLUX; GENE; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GESTATIONAL AGE; HIP DISLOCATION; HUMAN; INDUCED HYPOTHERMIA; KMT2A GENE; MECONIUM; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY TRACT INTUBATION; SHORT STATURE; VESICOURETERAL REFLUX; WIEDEMANN STEINER SYNDROME; ABNORMALITIES, MULTIPLE; BONE DYSPLASIA; FACIES; GENETICS; HAND; HETEROZYGOTE; PHENOTYPE; RADIOGRAPHY; SYNDROME;

ABNORMALITIES, MULTIPLE; BONE DISEASES, DEVELOPMENTAL; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; EXONS; FACIES; FEMALE; HAND; HETEROZYGOTE; HUMANS; MYELOID-LYMPHOID LEUKEMIA PROTEIN; PHENOTYPE; SEQUENCE DELETION; SYNDROME;

EID: 84904382571     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36590     Document Type: Article

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