Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

European Journal of Human Genetics

Volumn 20, Issue 6, 2012, Pages 598-606

  De Munnik, Sonja A ^a   Bicknell, Louise S ^b   Aftimos, Salim ^c   Al Aama, Jumana Y ^d   Van Bever, Yolande ^e   Bober, Michael B ^f   Clayton Smith, Jill ^g   Edrees, Alaa Y ^d   Feingold, Murray ^h   Fryer, Alan ⁱ   Van Hagen, Johanna M ^j   Hennekam, Raoul C ^k   Jansweijer, Maaike C E ^l   Johnson, Diana ^m   Kant, Sarina G ⁿ   Opitz, John M ^o   Ramadevi, A Radha ^p   Reardon, Willie ^q   Ross, Alison ^r   Sarda, Pierre ^s   Schrander Stumpel, Constance T R M ^t   Schoots, Jeroen ^a   Temple, I Karen ^u   Terhal, Paulien A ^v   Toutain, Annick ^w   Wise, Carol A ^x   Wright, Michael ^y   Skidmore, David L ^z,aa   Samuels, Mark E ^ab   Hoefsloot, Lies H ^a   Knoers, Nine V A M ^v   Brunner, Han G ^a   Jackson, Andrew P ^b   Bongers, Ernie M H F ^a   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

^c AUCKLAND CITY HOSPITAL   (New Zealand)

^d KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^e ERASMUS MEDICAL CENTER   (Netherlands)

^f NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^g UNIVERSITY OF MANCHESTER   (United Kingdom)

^h National Birth Defects Centre   (United States)

ⁱ ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^j VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^k UNIVERSITY OF AMSTERDAM   (Netherlands)

^l EMMA CHILDREN S HOSPITAL   (Netherlands)

^m SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

ⁿ LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^o UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^p Rainbow Children's Hospital   (India)

^q OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^r Ashgrove House ^*  (United Kingdom)

^s HÔPITAL ARNAUD DE VILLENEUVE   (France)

^t MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^u UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^v UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^w CHU BRETONNEAU   (France)

^x TEXAS SCOTTISH RITE HOSPITAL FOR CHILDREN   (United States)

^y NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^z IWK HEALTH CENTRE   (Canada)

^aa DALHOUSIE UNIVERSITY   (Canada)

^ab CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

more..

Author keywords

ear patella short stature syndrome; genotype phenotype; Meier Gorlin syndrome; origin recognition complex; pre replication complex

Indexed keywords

GROWTH HORMONE; ORIGIN RECOGNITION COMPLEX; PRE REPLICATION COMPLEX; UNCLASSIFIED DRUG;

ADOLESCENT; APLASIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BODY HEIGHT; BREAST HYPOPLASIA; CDC6 GENE; CDT1 GENE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CRYPTORCHISM; DISEASE SEVERITY; EAR PATELLA SHORT STATURE SYNDROME; FEMALE; GENE; GENE MUTATION; GENITAL MALFORMATION; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HORMONAL THERAPY; HUMAN; HYPOPLASIA; LUNG EMPHYSEMA; MALE; MERLIN GORLIN SYNDROME; MICROTIA; MULTIPLE MALFORMATION SYNDROME; ORC1 GENE; ORC4 GENE; ORC6 GENE; PATELLA; PRIORITY JOURNAL; SHORT STATURE; SYNDROME DELINEATION;

ADOLESCENT; ADULT; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; EAR; FEMALE; GENETIC ASSOCIATION STUDIES; GROWTH DISORDERS; HUMANS; INFANT; MALE; MICROGNATHISM; MIDDLE AGED; MUTATION; ORIGIN RECOGNITION COMPLEX; PATELLA;

EID: 84862820018     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.269     Document Type: Article

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