CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome

Clinical Genetics

Volumn 77, Issue 1, 2010, Pages 92-96

  Cordova Fletes C ^a,b   Rademacher, N ^c   Muller I ^c   Mundo Ayala, J N ^a,b   Morales Jeanhs, E A ^a,b   Garcia Ortiz J E ^a   Leon Gil A ^d   Rivera, H ^a,b   Dominguez M G ^a,b   Kalscheuer, V M ^c  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA DE OCCIDENTE   (Mexico)

^b UNIVERSITY OF GUADALAJARA   (Mexico)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE LIKE 5 PROTEIN; PROTEIN SERINE THREONINE KINASE; UNCLASSIFIED DRUG;

BRAIN ATROPHY; CASE REPORT; CHILD; CHROMOSOME TRANSLOCATION; COMPUTER ASSISTED TOMOGRAPHY; CORPUS CALLOSUM AGENESIS; CYANOSIS; ELECTROENCEPHALOGRAM; FEMALE; GENE DISRUPTION; GENE FUSION; HUMAN; HYPERTRICHOSIS; INFANT; INFANTILE SPASM; INTRON; LETTER; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

ADULT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC LOCI; HUMANS; INFANT; PROTEIN-SERINE-THREONINE KINASES; SPASMS, INFANTILE; SYNDROME;

EID: 73049092246     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01286.x     Document Type: Letter

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