Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation [5]

American Journal of Medical Genetics, Part A

Volumn 146, Issue 2, 2008, Pages 257-260

  Boccone, Loredana ^a   Dessì, Valentina ^b   Serra, Gigliola ^c   Zibordi, Federica ^d   Loudianos, Georgios ^a  

^a Osp Regionale per le Microcitemie   (Italy)

^b Dipartimento di Scienze Biomediche e Biotecnologie USC   (Italy)

^c UNIVERSITY OF SASSARI   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

AUTOSOMAL DOMINANT DISORDER; BANNAYAN RILEY RUVALCABA SYNDROME; CASE REPORT; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; COGNITIVE DEFECT; CONGENITAL CATARACT; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; LANGUAGE DISABILITY; LETTER; MALE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PTEN GENE; RNA ANALYSIS; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM;

BASE SEQUENCE; CATARACT; CHILD; CONSENSUS SEQUENCE; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; MALE; MUTATION; PTEN PHOSPHOHYDROLASE; RNA SPLICING;

EID: 37849032335     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32086     Document Type: Letter

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