Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype

American Journal of Medical Genetics, Part A

Volumn 161, Issue 6, 2013, Pages 1300-1308

  Tüysüz, Beyhan ^a   Yilmaz, Saliha ^b   Gül, Ece ^a   Kolb, Luis ^b   Bilguvar, Kaya ^b   Evliyaoǧlu, Olcay ^a   Günel, Murat ^b  

^a ISTANBUL UNIVERSITY   (Turkey)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

3 phosphoadenosine 5 phosphosulfate synthase 2; Pakistani type; PAPSS2; SEMD; Spondyloepimetaphyseal dysplasia

Indexed keywords

ANDROSTENEDIONE; ESTRADIOL; FOLLITROPIN; GLUCOSE; HYDROCORTISONE; INSULIN; LUTEINIZING HORMONE; PRASTERONE; PROGESTERONE; TESTOSTERONE; MULTIENZYME COMPLEX; PAPS SYNTHETASE; PRASTERONE SULFATE; STOP CODON; SULFATE ADENYLYLTRANSFERASE;

ADOLESCENT; ADULT; ANDROGEN BLOOD LEVEL; ARTICLE; BODY HEIGHT; BONE DEFORMATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ESTRADIOL BLOOD LEVEL; ETHNIC GROUP; FAMILY HISTORY; FEMALE; FOLLITROPIN BLOOD LEVEL; GENE; GENETIC VARIABILITY; GLUCOSE BLOOD LEVEL; HOMOZYGOSITY; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPERANDROGENISM; INSULIN BLOOD LEVEL; INSULIN RESISTANCE; LUTEINIZING HORMONE BLOOD LEVEL; MALE; NONSENSE MUTATION; PAPS SYNTHASE 2 GENE; PHENOTYPE; PRIORITY JOURNAL; PROGESTERONE BLOOD LEVEL; SHORT STATURE; SPINE RADIOGRAPHY; SPONDYLOEPIPHYSEAL DYSPLASIA; STOP CODON; TESTOSTERONE BLOOD LEVEL; TURKISH; BLOOD; BONE MINERALIZATION; CASE REPORT; CHONDRODYSPLASIA; CONSANGUINITY; DNA SEQUENCE; DWARFISM; GENETICS; GENOTYPE; GROWTH DISORDER; HOMOZYGOTE; MULTIPLE MALFORMATION SYNDROME; MUSCULOSKELETAL SYSTEM MALFORMATION; PEDIGREE; RADIOGRAPHY; TURKEY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CALCIFICATION, PHYSIOLOGIC; CODON, NONSENSE; CONSANGUINITY; DEHYDROEPIANDROSTERONE; DEHYDROEPIANDROSTERONE SULFATE; DWARFISM; FEMALE; GENOTYPE; GROWTH DISORDERS; HOMOZYGOTE; HUMANS; MALE; MULTIENZYME COMPLEXES; MUSCULOSKELETAL ABNORMALITIES; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SULFATE ADENYLYLTRANSFERASE; TURKEY;

EID: 84878253429     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35906     Document Type: Article

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