Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 2, 2012, Pages 340-350

  Halbach, Nicky S J ^a,b   Smeets, Eric E J ^a,c   van den Braak, Noortje ^a   van Roozendaal, Kees E P ^a,c   Blok, Rien M J ^a,c   Schrander Stumpel, Constance T R M ^a,c   Frijns, Jean Pierre ^a,c,d   Maaskant, Marian A ^a,b,e   Curfs, Leopold M G ^a,b,c  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c MAASTRICHT UNIVERSITY   (Netherlands)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^e NONE

Author keywords

Genotype; Intellectual disabilities; ISS; Phenotype; Rett syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL PRACTICE; DISEASE SEVERITY; FACTUAL DATABASE; FAMILY COUNSELING; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD; NUCLEOTIDE SEQUENCE; OUTCOME ASSESSMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; RETT SYNDROME; SCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DATABASES, GENETIC; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; GENOTYPE; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MIDDLE AGED; MUTATION; PHENOTYPE; PROGNOSIS; PROTEIN STRUCTURE, TERTIARY; RETT SYNDROME; SEQUENCE ANALYSIS, DNA;

EID: 84856212881     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34418     Document Type: Article

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