Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome?

American Journal of Medical Genetics, Part A

Volumn 155, Issue 1, 2011, Pages 9-13

  Phadke, Shubha R ^a   Sharda, Sheetal ^a   Urquhart, Jill ^b   Jenkinson, Emma ^b   Chawala, Shobhit ^c   Trump, Dorothy ^b  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c Prakash Netra Kendra   (India)

Author keywords

Mental retardation; Retinoschisis; RS1; X linked

Indexed keywords

GENOMIC DNA; RETINOSCHISIN;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE CLASSIFICATION; DNA SEQUENCE; FEMALE; GENE DELETION; GENE DOSAGE; HETEROZYGOTE DETECTION; HUMAN; MALE; MEDICAL HISTORY; MICROARRAY ANALYSIS; MICROCEPHALY; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINOSCHISIS; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DISORDER; X LINKED MENTAL RETARDATION;

CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; DWARFISM; EYE PROTEINS; GENETIC DISEASES, X-LINKED; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION; MICROARRAY ANALYSIS; MICROCEPHALY; RETINOSCHISIS; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 78650661492     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33663     Document Type: Article

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