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Rothmundov-Thomsonov syndróm

  1. Subject h.Rothmundov-Thomsonov syndróm
    Subject h.Rothmund-Thomson Syndrome
    Entry termspoikilodermia kongenitálna
    poikilodermia vrodená
    English X referencesPoikiloderma Congenitale
    Scope note in EnglishAn autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.
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Number of the records: 1  

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