Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene

Clinical Genetics

Volumn 76, Issue 6, 2009, Pages 573-576

  Borgatti, Renato ^a   Marelli, Susan ^a   Bernardini, Laura ^b   Novelli, Antonio ^b   Cavallini, Anna ^a   Tonelli, Alessandra ^a   Bassi, Maria Teresa ^a   Dallapiccola, Bruno ^c  

^a SCIENTIFIC INSTITUTE   (Italy)

^b IRCCS FONDAZIONE BIETTI   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

G PROTEIN COUPLED RECEPTOR; G PROTEIN COUPLED RECEPTOR 56; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; BILATERAL FRONTOPARIETAL POLYMICROGYRIA SYNDROME; CASE REPORT; CEREBELLUM HYPOPLASIA; CHROMOSOME 16Q; CHROMOSOME 21Q; CHROMOSOME DELETION; DEVELOPMENTAL DISORDER; DIVERGENT STRABISMUS; DYSPHAGIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE IDENTIFICATION; HOMOZYGOSITY; HUMAN; INFANT; LETTER; MALE; MICROARRAY ANALYSIS; MICROGYRIA; MUSCLE HYPERTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; PREGNANCY; RECEPTORS, G-PROTEIN-COUPLED; SYNDROME;

EID: 70749111059     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01262.x     Document Type: Letter

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