Weaver syndrome and defective cortical development: A rare association

American Journal of Medical Genetics, Part A

Volumn 161, Issue 1, 2013, Pages 225-227

  Al Salem, Ahmed ^a,b   Alshammari, Muneera J ^a,c   Hassan, Hamdy ^c   Alazami, Anas M ^a   Alkuraya, Fowzan S ^a,c,d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

De novo; EZH2; Pachygyria; Polymicrogyria; Weaver syndrome

Indexed keywords

BIRTH WEIGHT; BODY HEIGHT; BONE AGE; BRAIN RADIOGRAPHY; CASE REPORT; CHILD; CONSERVATIVE TREATMENT; DEFECTIVE CORTICAL DEVELOPMENT; DEVELOPMENTAL STAGE; FACE DYSMORPHIA; GENE SEQUENCE; GENETIC DISORDER; GROWTH ACCELERATION; HEAD CIRCUMFERENCE; HUMAN; HYPERBILIRUBINEMIA; LETTER; MALE; MICROGYRIA; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; UMBILICAL HERNIA; WEAVER SYNDROME;

ABNORMALITIES, MULTIPLE; CONGENITAL HYPOTHYROIDISM; CRANIOFACIAL ABNORMALITIES; EXONS; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT; MALE; MUTATION; POLYCOMB REPRESSIVE COMPLEX 2;

EID: 84871705910     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35660     Document Type: Letter

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