Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations

Human Mutation

Volumn 34, Issue 10, 2013, Pages 1381-1386

  Iida, Aritoshi ^a   Simsek Kiper, Pelin Özlem ^b   Mizumoto, Shuji ^c   Hoshino, Touma ^c   Elcioglu, Nursel ^d   Horemuzova, Eva ^e   Geiberger, Stefan ^e   Yesil, Gozde ^f   Kayserili, Hülya ^g   Utine, Gülen Eda ^b   Boduroglu, Koray ^b   Watanabe, Shigehiko ^h   Ohashi, Hirofumi ^h   Alanay, Yasemin ⁱ   Sugahara, Kazuyuki ^c   Nishimura, Gen ^j   Ikegawa, Shiro ^a  

^a RIKEN   (Japan)

^b HACETTEPE UNIVERSITY   (Turkey)

^c HOKKAIDO UNIVERSITY   (Japan)

^d MARMARA UNIVERSITY   (Turkey)

^e KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^f BEZMIALEM VAKIF UNIVERSITY   (Turkey)

^g ISTANBUL UNIVERSITY   (Turkey)

^h SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

ⁱ ACIBADEM UNIVERSITY   (Turkey)

^j TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

more..

Author keywords

Androgen excess; Brachyolmia; PAPSS2; Phenotype

Indexed keywords

3' PHOSPHOADENOSINE 5' PHOSPHOSULFATE SYNTHASE 2; ADENOSINE 3' PHOSPHATE 5' PHOSPHOSULFATE; UNCLASSIFIED DRUG;

ARTICLE; BONE DYSPLASIA; BONE RADIOGRAPHY; BRACHYOLMIA; CLINICAL ARTICLE; CLINICAL FEATURE; ENZYME ASSAY; FEMALE; GENE MUTATION; HUMAN; IN VITRO STUDY; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROXIMAL INTERPHALANGEAL JOINT; SHORT STATURE; SPINE MALFORMATION;

ILIA;

ANDROGEN EXCESS; BRACHYOLMIA; PAPSS2; PHENOTYPE;

CHILD, PRESCHOOL; CONSANGUINITY; ENZYME ACTIVATION; EXONS; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INTRONS; MALE; MULTIENZYME COMPLEXES; MUTATION; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; SULFATE ADENYLYLTRANSFERASE;

EID: 84884534013     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22377     Document Type: Article

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