Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

European Journal of Medical Genetics

Volumn 58, Issue 5, 2015, Pages 279-292

  Maas, Saskia M ^a   Shaw, Adam C ^b   Bikker, Hennie ^a   Lüdecke, Hermann Josef ^c   van der Tuin, Karin ^d   Badura Stronka, Magdalena ^e   Belligni, Elga ^f   Biamino, Elisa ^f   Bonati, Maria Teresa ^g   Carvalho, Daniel R ^h   Cobben, JanMaarten ^a   de Man, Stella A ⁱ   Den Hollander, Nicolette S ^d   Di Donato, Nataliya ^j   Garavelli, Livia ^k   Grønborg, Sabine ^l   Herkert, Johanna C ^m   Hoogeboom, A Jeannette M ⁿ   Jamsheer, Aleksander ^e   Latos Bielenska, Anna ^e   Maat Kievit, Anneke ⁿ   Magnani, Cinzia ^o   Marcelis, Carlo ^p   Mathijssen, Inge B ^a   Nielsen, Maartje ^d   Otten, Ellen ^m   Ousager, Lilian B ^q   Pilch, Jacek ^r   Plomp, Astrid ^a   Poke, Gemma ^s   Poluha, Anna ^t   Posmyk, Renata ^u   Rieubland, Claudine ^v   Silengo, Margharita ^f   Simon, Marleen ⁿ   Steichen, Elisabeth ^w   Stumpel, Connie ^x   Szakszon, Katalin ^y   Polonkai, Edit ^y   van den Ende, Jenneke ^z   van der Steen, Antony ^aa   van Essen, Ton ^m   van Haeringen, Arie ^d   van Hagen, Johanna M ^ab   Verheij, Joke B G M ^m   Mannens, Marcel M ^a   Hennekam, Raoul C ^a   more..

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^f UNIVERSITY OF TURIN   (Italy)

^g ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^h SARAH NETWORK OF REHABILITATION HOSPITALS   (Brazil)

ⁱ AMPHIA HOSPITAL   (Netherlands)

^j DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^k S MARIA NUOVA HOSPITAL   (Italy)

^l Rigshospitalet   (Denmark)

^m UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

ⁿ ERASMUS MEDICAL CENTER   (Netherlands)

^o UNIVERSITY HOSPITAL OF PARMA   (Italy)

^p RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^q ODENSE UNIVERSITY HOSPITAL   (Denmark)

^r MEDICAL UNIVERSITY OF SILESIA   (Poland)

^s Genetic Health Service NZ   (New Zealand)

^t Department of Medical Genetics ^*  (Poland)

^u MEDICAL UNIVERSITY OF BIALYSTOK   (Poland)

^v UNIVERSITY OF BERN   (Switzerland)

^w INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^x MAASTRICHT UNIVERSITY   (Netherlands)

^y UNIVERSITY OF DEBRECEN   (Hungary)

^z ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^aa IWK Grace Health Center   (Canada)

^ab VU UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

EXT1; Genotype; Langer Giedion syndrome; Multiple exostoses; Natural history; Phenotype; RAD21; Review; Tricho rhino phalangeal syndrome; TRPS; TRPS1

Indexed keywords

ADOLESCENT; ADULT; AGED; AORTA STENOSIS; ARTICLE; ASTIGMATISM; ATRIOVENTRICULAR BLOCK; BICUSPID AORTIC VALVE; BRONCHITIS; CHILD; CRANIOFACIAL MALFORMATION; CYTOGENETICS; DISEASE SEVERITY; EXON; EXOSTOSIS; EYEBROW; FEBRILE CONVULSION; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAIR COLOR; HANDWRITING; HAPLOINSUFFICIENCY; HEARING IMPAIRMENT; HEART LEFT VENTRICLE FAILURE; HEREDITARY MULTIPLE EXOSTOSIS; HIP DYSPLASIA; HISTORY; HUMAN; HYDRONEPHROSIS; HYPERMETROPIA; INTELLECTUAL IMPAIRMENT; JOINT LAXITY; LACRIMAL DUCT OCCLUSION; LUNG VEIN DRAINAGE ANOMALY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; MORBIDITY; MYOPIA; OPTIC DISK ANOMALY; OSTEOPENIA; PATELLA DISLOCATION; PATENT DUCTUS ARTERIOSUS; PATENT FORAMEN OVALE; PERTHES DISEASE; PIGEON THORAX; SCANTY HAIR; SEROUS OTITIS MEDIA; SKELETON MALFORMATION; SLEEP DISORDERED BREATHING; STRABISMUS; SYNDACTYLY; TONIC CLONIC SEIZURE; TRICHO RHINO PHALANGEAL SYNDROME; UMBILICAL HERNIA; UTERUS BICORNIS; WOLFF PARKINSON WHITE SYNDROME; CHONDRODYSPLASIA; GENETIC ASSOCIATION STUDY; GENETICS; INFANT; MIDDLE AGED; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

COLUMELLA;

DNA BINDING PROTEIN; TRANSCRIPTION FACTOR; TRPS1 PROTEIN, HUMAN;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DNA-BINDING PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; LANGER-GIEDION SYNDROME; MALE; MIDDLE AGED; MUTATION, MISSENSE; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84928829503     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2015.03.002     Document Type: Article

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