Concepedia

Cyp21a2 Mutations

CYP21A2 Mutations is a genetic alteration in the CYP21A2 gene, which encodes steroid 21-hydroxylase, and represents a primary molecular etiology underlying congenital adrenal hyperplasia due to impaired cortisol biosynthesis.

284

Publications

13.9K

Citations

1.4K

Authors

545

Institutions

Publications per year

2017–2026

45

Parents

Publications

284

Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Perrin C. White · Endocrine Reviews · 2000 · 876 citations

, , +13

Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Maria I. New, Moolamannil Abraham, Brian D. Gonzalez et al. · Proceedings of the National Academy of Sciences · 2013 · 361 citations · Full text

, , +17

Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

Maria I. New, Tong Yu, Tony Yuen et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 324 citations

, , +16

The ratio of second- and fourth-digit lengths and congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Ayşenur Ökten, Mukaddes Kalyoncu · Early Human Development · 2002 · 317 citations

, , +16

Gender Role Behavior, Sexuality, and Psychosocial Adaptation in Women with Congenital Adrenal Hyperplasia due to<i>CYP21A2</i>Deficiency

Louise Frisén, Anna Nordenström, Henrik Falhammar et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 273 citations · Full text

, , +14

1–5 of 284

Authors

1.4K

  1. AW
    Anna Wedell

    Karolinska University Hospital, Sweden

    14 publications · 910 citations

    14

    h-index

  2. TA
    Tânia A.S.S. Bachega

    Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Brazil

    14 publications · 785 citations

    13

    h-index

  3. HF
    Henrik Falhammar

    Karolinska University Hospital, Sweden

    13 publications · 1.3K citations

    13

    h-index

  4. MI
    Maria I. New

    Cornell University, United States

    12 publications · 1.2K citations

    12

    h-index

  5. WC
    Wuyan Chen

    Chinese Academy of Sciences, China

    11 publications · 809 citations

    11

    h-index

1–5 of 1.4K

Institutions

545

  1. Karolinska University Hospital

    Stockholm, Sweden

    21 h-index

    81 publications

    5.5K citations

  2. Karolinska Institutet

    Stockholm, Sweden

    17 h-index

    81 publications

    6.7K citations

  3. Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

    São Paulo, Brazil

    13 h-index

    68 publications

    3.1K citations

  4. Eunice Kennedy Shriver National Institute of Child Health and Human Development

    Bethesda, United States

    11 h-index

    30 publications

    2.5K citations

  5. Icahn School of Medicine at Mount Sinai

    New York, United States

    10 h-index

    30 publications

    2.5K citations

  6. National Institutes of Health

    Bethesda, United States

    10 h-index

    27 publications

    2.3K citations

  7. Children's Hospital of Pittsburgh

    Pittsburgh, United States

    9 h-index

    14 publications

    686 citations

  8. National Institutes of Health Clinical Center

    Bethesda, United States

    9 h-index

    38 publications

    2.4K citations

1–8 of 545

Venues

  1. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 55 publications · 4.4K citations

    37

    h-index

  2. Human Genetics

    15 publications · 659 citations

    14

    h-index

  3. Clinical Endocrinology

    13 publications · 558 citations

    12

    h-index

  4. PubMed

    Repository · 17 publications · 488 citations

    11

    h-index

  5. European Journal of Endocrinology

    EJE · 10 publications · 681 citations

    10

    h-index

1–5