Concepedia

Congenital Hypopigmentation

Congenital Hypopigmentation is a pigmentary disorder characterized by reduced melanin production or distribution in the skin, hair, or eyes that is present at birth and results from genetic or developmental anomalies affecting melanocyte function or number.

124

Publications

4.6K

Citations

557

Authors

219

Institutions

Publications per year

2017–2026

7

Parents

Publications

124

The Mouse Pink-Eyed Dilution Gene: Association with Human Prader-Willi and Angelman Syndromes

John M. Gardner, Yoshimichi Nakatsu, Yoichi Gondo et al. · Science · 1992 · 232 citations

, , +15

Asymmetric visually evoked potentials in human albinos: evidence for visual system anomalies.

Donnell J. Creel, Carl J. Witkop, Richard A. King · PubMed · 1974 · 173 citations

, , +17

Tietz syndrome (hypopigmentation/deafness) caused by mutation of<i>MITF</i>: Figure 1

Shelley D. Smith, Philip M. Kelley, Judith B. Kenyon et al. · Journal of Medical Genetics · 2000 · 151 citations · Full text

, , +17

Complementation of Hypopigmentation in p-Mutant (Pink-Eyed Dilution) Mouse Melanocytes by Normal Human P cDNA, and Defective Complementation by OCA2 Mutant Sequences

Elena V. Sviderskaya, Dorothy C. Bennett, Lingling Ho et al. · Journal of Investigative Dermatology · 1997 · 124 citations · Full text

, , +10

Hermansky-Pudlak Syndrome and Chediak-Higashi Syndrome: Disorders of Vesicle Formation and Trafficking

Marjan Huizing, Yair Anikster, William A. Gahl · Thrombosis and Haemostasis · 2001 · 123 citations

, , +17

1–5 of 124

Authors

557

  1. RA
    Richard A. King

    University of Minnesota, United States

    8 publications · 627 citations

    8

    h-index

  2. RH
    Rudolf Happle

    Philipps University of Marburg, Germany

    4 publications · 139 citations

    4

    h-index

  3. DJ
    Donnell J. Creel

    University of Utah, United States

    4 publications · 256 citations

    4

    h-index

  4. YN
    Yoshimichi Nakatsu

    Kyushu University, Japan

    3 publications · 356 citations

    3

    h-index

  5. DB
    Dayong Bai

    Beijing Children’s Hospital, China

    3 publications · 85 citations

    3

    h-index

1–5 of 557

Institutions

219

  1. University of Minnesota

    Minneapolis, United States

    9 h-index

    20 publications

    1.1K citations

  2. Beijing Tongren Hospital

    Beijing, China

    3 h-index

    7 publications

    197 citations

  3. Beijing Children’s Hospital

    Beijing, China

    3 h-index

    20 publications

    570 citations

  4. University of Catania

    Catania, Italy

    3 h-index

    3 publications

    118 citations

  5. Capital Medical University

    Beijing, China

    3 h-index

    26 publications

    746 citations

  6. National Human Genome Research Institute

    Bethesda, United States

    3 h-index

    10 publications

    250 citations

  7. Fox Chase Cancer Center

    Philadelphia, United States

    3 h-index

    10 publications

    1.4K citations

  8. Harvard University

    Cambridge, United States

    3 h-index

    4 publications

    231 citations

1–8 of 219

Venues

  1. PubMed

    Repository · 17 publications · 658 citations

    13

    h-index

  2. Archives of Dermatology

    10 publications · 303 citations

    10

    h-index

  3. American Journal of Medical Genetics

    9 publications · 465 citations

    9

    h-index

  4. Journal of Medical Genetics

    JMG · 7 publications · 306 citations

    7

    h-index

  5. Clinical Genetics

    6 publications · 129 citations

    6

    h-index

1–5