Genotype - phenotype correlations in L1 syndrome: A guide for genetic counselling and mutation analysis

Journal of Medical Genetics

Volumn 47, Issue 3, 2010, Pages 169-175

  Vos, Yvonne J ^a   De Walle, Hermien E K ^a   Bos, Krista K ^a   Stegeman, Jenneke A ^a   Ten Berge, Annelies M ^a   Bruining, Martijn ^b   Van Maarle, Merel C ^c   Elting, Mariet W ^d   Den Hollander, Nicolette S ^e   Hamel, Ben ^f   Fortuna, Ana Maria ^g   Sunde, Lone E M ^h   Stolte Dijkstra, Irene ^a   Schrander Stumpel, Connie T R M ⁱ   Hofstra, Robert M W ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b MEDICAL CENTER LEEUWARDEN   (Netherlands)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g National Health Institute   (Portugal)

^h AALBORG UNIVERSITY HOSPITAL   (Denmark)

ⁱ MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

NERVE CELL ADHESION MOLECULE L1;

ARTICLE; CHILD; CHROMOSOME DUPLICATION; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; REGULATORY SEQUENCE; RNA SPLICING; SEQUENCE ANALYSIS; SEX CHROMOSOME MOSAICISM; X CHROMOSOME LINKED DISORDER;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; GENETIC COUNSELING; GENETIC DISEASES, X-LINKED; GERM-LINE MUTATION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOSAICISM; NEURAL CELL ADHESION MOLECULE L1; PRACTICE GUIDELINES AS TOPIC; SYNDROME;

EID: 77949728324     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.071688     Document Type: Article

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