PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 12, 2012, Pages

  Linglart, Agnès ^a   Fryssira, Helena ^b   Hiort, Olaf ^c   Holterhus, Paul Martin ^d   Perez De Nanclares, Guiomar ^e   Argente, Jesús ^f,g   Heinrichs, Claudine ^h   Kuechler, Alma ⁱ   Mantovani, Giovanna ^j   Leheup, Bruno ^k   Wicart, Philippe ^l   Chassot, Virginie ^m   Schmidt, Dorothée ^c   Rubio Cabezas, Óscar ^h   Richter Unruh, Annette ⁿ   Berrade, Sara ^o   Pereda, Arrate ^e   Boros, Emese ^h   Muñoz Calvo, Maria Teresa ^f   Castori, Marco ^p   Gunes, Yasemin ^a   Bertrand, Guylene ^q   Bougnères, Pierre ^a   Clauser, Eric ^r   Silve, Caroline ^a   more..

^a BICÊTRE HOSPITAL   (France)

^b AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^c UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^d Campus Lübeck Ratzeburger ^*  (Spain)

^e Universitario Araba   (Spain)

^f HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^g Centro de Investigación Biomédica en Red de Cáncer CIBERONC University of Barcelona   (Spain)

^h HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

ⁱ UNIVERSITY HOSPITAL ESSEN   (Germany)

^j UNIVERSITY OF MILAN   (Italy)

^k UNIVERSITY HOSPITAL OF NANCY   (France)

^l HÔPITAL NECKER ENFANTS MALADES   (France)

^m Service de Pédiatrie CHT Gaston Bourret   (France)

ⁿ Zentrum für Hormon und Stoffwechselerkrankungen   (Germany)

^o Universidad Pública de Navarra   (Spain)

^p SAPIENZA UNIVERSITY OF ROME   (Italy)

^q BICHAT HOSPITAL   (France)

^r Hôpital Cochin ^*  (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP; CYCLIC AMP DEPENDENT PROTEIN KINASE REGULATORY SUBUNIT IALPHA; G PROTEIN COUPLED RECEPTOR; GENOMIC DNA; GENOMIC RNA; PARATHYROID HORMONE; PHOSPHODIESTERASE IV; PHOSPHODIESTERASE IV D; THYROTROPIN; UNCLASSIFIED DRUG;

ACRODYSOSTOSIS; ACROSKYPHODYSPLASIA; ADOLESCENT; ADULT; ARTICLE; BONE DYSPLASIA; BRACHYDACTYLY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HORMONE RESISTANCE; HUMAN; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NUCLEOTIDE SEQUENCE; PDE4D GENE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PRKAR1A GENE; SCHOOL CHILD; SIGNAL TRANSDUCTION; SKIN DEFECT; SKIN PIGMENTATION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CYCLIC AMP-DEPENDENT PROTEIN KINASE RIALPHA SUBUNIT; CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 3; DIAGNOSTIC TECHNIQUES, ENDOCRINE; DRUG RESISTANCE; DYSOSTOSES; FEMALE; HORMONES; HUMANS; INTELLECTUAL DISABILITY; MALE; OSTEOCHONDRODYSPLASIAS; PARATHYROID HORMONE; RECEPTORS, G-PROTEIN-COUPLED; SIGNAL TRANSDUCTION; SYNDROME; THYROID HORMONE RESISTANCE SYNDROME; YOUNG ADULT;

EID: 84870743491     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-2326     Document Type: Article

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