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    1. Methimazole, Carbimazole, and Congenital Skin Defects Annals of Internal Medicine · 1987 · 132 citations
    2. Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII Helda (University of Helsinki) · 2013
    3. Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita Journal of Investigative Dermatology · 2007 · 46 citations
    4. Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development Seminars in reproductive medicine · 2012 · 46 citations
    5. Outcomes of Tissue Expander Application for Scalp Reconstruction in Extensive Aplasia Cutis Congenita Aesthetic Plastic Surgery · 2015 · 4 citations
    6. Genetic Defects of Female Sexual Differentiation Elsevier eBooks · 2016
    7. Androgen Biosynthesis and Gene Defects Elsevier eBooks · 2014
    8. Office Diagnosis of Hair Shaft Defects Seminars in cutaneous medicine and surgery · 2006 · 33 citations
    9. Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument Neuropediatrics · 2004 · 80 citations
    10. Síndrome postfinasterida y disfunción eréctil. Caso clínico y revisión de la literatura Revista Chilena de Urología · 2023
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