A CDKL5 mutated child with precocious puberty

American Journal of Medical Genetics, Part A

Volumn 149, Issue 5, 2009, Pages 1046-1051

  Saletti, Veronica ^a   Canafoglia, Laura ^a   Cambiaso, Paola ^b   Russo, Silvia ^c   Marchi, Margherita ^c   Riva, Daria ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c ISTITUTO AUXOLOGICO ITALIANO   (Italy)

Author keywords

CDKL5; Hanefeld variant; Precocious puberty; Rett syndrome

Indexed keywords

ESTRADIOL; FOLLITROPIN; LUTEINIZING HORMONE;

ANAMNESIS; ARTICLE; CASE REPORT; CDKL5 GENE; CHILD; CLINICAL FEATURE; ESTRADIOL BLOOD LEVEL; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; GONADORELIN TEST; HUMAN; PHYSICAL EXAMINATION; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PRIORITY JOURNAL;

CHILD, PRESCHOOL; FEMALE; HUMANS; MUTATION; PROTEIN-SERINE-THREONINE KINASES; PUBERTY, PRECOCIOUS;

EID: 66849129536     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32806     Document Type: Article

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