Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency | Zendy

Nils Krone | Zendy; Nicole Reisch | Zendy; Jan Idkowiak | Zendy; Vivek Dhir | Zendy; Hannah E Ivison | Zendy; Beverly Hughes | Zendy; Ian T. Rose | Zendy; Donna O’Neil | Zendy; Raymon Vijzelaar | Zendy; Matthew J. Smith | Zendy; Fiona MacDonald | Zendy; Trevor Cole | Zendy; Nicolai Adolphs | Zendy; John Barton | Zendy; Edward Blair | Zendy; Stephen R. Braddock | Zendy; Felicity Collins | Zendy; Deborah Cragun | Zendy; Mehul Dattani | Zendy; Ruth Day | Zendy; Shelley Dougan | Zendy; Miriam Feist | Zendy; Michael Gottschalk | Zendy; John W. Gregory | Zendy; Michaela Haim | Zendy; Rachel Harrison | Zendy; Ann Haskins Olney | Zendy; Berthold P. Hauffa | Zendy; Peter C. Hindmarsh | Zendy; Robert J. Hopkin | Zendy; Petr Jira | Zendy; Marlies Kempers | Zendy; Michiel N. Kerstens | Zendy; Mohamed M. Khalifa | Zendy; Birgit Köhler | Zendy; Dominique Maiter | Zendy; Shelly Nielsen | Zendy; Stephen O’Riordan | Zendy; Christian Roth | Zendy; Kate Shane-Carson | Zendy; Martin Silink | Zendy; Nike Stikkelbroeck | Zendy; Elizabeth Sweeney | Zendy; Maria SzarrasCzapnik | Zendy; John Waterson | Zendy; Lori Williamson | Zendy; Michaela F. Hartmann | Zendy; Norman Taylor | Zendy; Stefan A. Wudy | Zendy; E Małunowicz | Zendy; Cedric Shackleton | Zendy; Wiebke Arlt | Zendy

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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Author(s) -

Nils Krone,

Nicole Reisch,

Jan Idkowiak,

Vivek Dhir,

Hannah E Ivison,

Beverly Hughes,

Ian T. Rose,

Donna O’Neil,

Raymon Vijzelaar,

Matthew J. Smith,

Fiona MacDonald,

Trevor Cole,

Nicolai Adolphs,

John Barton,

Edward Blair,

Stephen R. Braddock,

Felicity Collins,

Deborah Cragun,

Mehul Dattani,

Ruth Day,

Shelley Dougan,

Miriam Feist,

Michael Gottschalk,

John W. Gregory,

Michaela Haim,

Rachel Harrison,

Ann Haskins Olney,

Berthold P. Hauffa,

Peter C. Hindmarsh,

Robert J. Hopkin,

Petr Jira,

Marlies Kempers,

Michiel N. Kerstens,

Mohamed M. Khalifa,

Birgit Köhler,

Dominique Maiter,

Shelly Nielsen,

Stephen O’Riordan,

Christian Roth,

Kate Shane-Carson,

Martin Silink,

Nike Stikkelbroeck,

Elizabeth Sweeney,

Maria SzarrasCzapnik,

John Waterson,

Lori Williamson,

Michaela F. Hartmann,

Norman Taylor,

Stefan A. Wudy,

E Małunowicz,

Cedric Shackleton,

Wiebke Arlt

Publication year - 2011

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - Uncategorized

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2011-0640

Subject(s) - missense mutation , multiplex ligation dependent probe amplification , compound heterozygosity , 21 hydroxylase , congenital adrenal hyperplasia , endocrinology , genotype , medicine , biology , adrenal insufficiency , phenotype , genetics , gene , exon

P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal hyperplasia variant that manifests with glucocorticoid deficiency, disordered sex development (DSD), and skeletal malformations. No comprehensive data on genotype-phenotype correlations in Caucasian patients are available.

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