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Rothmundov-Thomsonov syndróm

  1. Record numberd011038
    Date06.06.2025
    TypeM - MESH
    Topical termRothmundov-Thomsonov syndróm
    Other termEnglish (Pseudonym) Poikiloderma Congenitale
    Slovak (Pseudonym) poikilodermia kongenitálna
    Slovak (Pseudonym) poikilodermia vrodená
    See also(Later heading) RecQ helikázy
    UDCC16.131.831.775C16.320.850.765C16.614.760C17.800.804.775C17.800.827.775C18.452.284.760
    NoteAn 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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