Different mutations in PDE4D associated with developmental disorders with mirror phenotypes

Journal of Medical Genetics

Volumn 51, Issue 1, 2014, Pages 45-54

  Lindstrand, Anna ^a,b   Grigelioniene, Giedre ^a,b   Nilsson, Daniel ^a,b   Pettersson, Maria ^a   Hofmeister, Wolfgang ^a   Anderlid, Britt Marie ^a,b   Kant, Sarina G ^c   Ruivenkamp, Claudia A L ^c   Gustavsson, Peter ^a,b   Valta, Helena ^d   Geiberger, Stefan ^b   Topa, Alexandra ^e   Lagerstedt Robinson, Kristina ^a,b   Taylan, Fulya ^a   Wincent, Josephine ^a,b   Laurell, Tobias ^a   Pekkinen, Minna ^f   Nordenskjöld, Magnus ^a,b   Mäkitie, Outi ^a,b,d,f   Nordgren, Ann ^a,b  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

^e SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^f FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ASPARTIC ACID; CYSTEINE; GLUTAMIC ACID; GLYCINE; ISOLEUCINE; LEUCINE; PHENYLALANINE; PHOSPHODIESTERASE 4D; PHOSPHODIESTERASE IV; PROLINE; SERINE; THREONINE; UNCLASSIFIED DRUG; VALINE;

ACRODYSOSTOSIS; ADOLESCENT; ADULT; ARM; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BODY MASS; CHILD; CHIN; CHROMOSOME 5Q; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EMBRYO; EXOME; FEMALE; FINGER; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE LOCUS; GENE SEQUENCE; GENE STRUCTURE; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; NONHUMAN; PATHOGENICITY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; TOE; YOUNG ADULT;

DANIO RERIO;

CLINICAL GENETICS; COPY-NUMBER; DEVELOPMENTAL; OTHER ENDOCRINOLOGY; OTHER NEUROLOGY;

ANIMALS; COMPARATIVE GENOMIC HYBRIDIZATION; CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 4; DEVELOPMENTAL DISABILITIES; DYSOSTOSES; FACIES; FEMALE; GENE DELETION; GENE EXPRESSION; GENE ORDER; GENETIC ASSOCIATION STUDIES; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; POINT MUTATION; ZEBRAFISH;

EID: 84890863558     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101937     Document Type: Article

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