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    1. Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay American Journal of Medical Genetics Part A · 2003 · 5 citations
    2. Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz Acta dermato-venereologica · 2020
    3. Phenotypic variability associated with<i>WNT10A</i>nonsense mutations 2010 · 28 citations
    4. Novel<i>PAX</i><i>9</i>mutation associated with syndromic tooth agenesis European Journal of Oral Sciences · 2013 · 20 citations
    5. BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations British Journal of Dermatology · 2021
    6. Partial biotinidase deficiency: Clinical and biochemical features The Journal of Pediatrics · 1990 · 86 citations
    7. BIOTIN-RESPONSIVE ALOPECIA AND DEVELOPMENTAL REGRESSION Lancet · 1979 · 74 citations
    8. Biotin deficiency complicating parenteral alimentation: Diagnosis, metabolic repercussions, and treatment 1985 · 50 citations
    9. Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia British Journal of Dermatology · 2007 · 17 citations
    10. Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient Molecular genetics & genomic medicine · 2021 · 3 citations
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