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Pregled bibliografske jedinice broj: 305211

Woodhouse-Sakati Syndrome: case report and symptoms review

Medica, Igor; Sepčić, Juraj; Peterlin, Borut
Woodhouse-Sakati Syndrome: case report and symptoms review // Genetic Counseling, 18 (2007), 2; 227-231 (recenziran, članak, stručni)

CROSBI ID: 305211 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Woodhouse-Sakati Syndrome: case report and symptoms review

Autori
Medica, Igor ; Sepčić, Juraj ; Peterlin, Borut

Izvornik
Genetic Counseling (1015-8146) 18 (2007), 2; 227-231

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, stručni

Ključne riječi
Woodhouse-Sakati Syndrome

Sažetak
We report on a 52-year old Caucasian woman exhibiting signs of Woodhouse-Sakati syndrome and review the clinical signs and symptoms in patients reported so far. The syndrome is characterized by alopecia, mental retardation, hypogonadism, diabetes mellitus, hearing impairment, ECG changes, and by autosomal recessive inheritance. We also propose that the limited mobility of the upper extremities is one of the features of the syndrome.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Rijeka

Profili:

Avatar Url Igor Medica (autor)

Avatar Url Juraj Sepčić (autor)

Citiraj ovu publikaciju:

Medica, Igor; Sepčić, Juraj; Peterlin, Borut
Woodhouse-Sakati Syndrome: case report and symptoms review // Genetic Counseling, 18 (2007), 2; 227-231 (recenziran, članak, stručni)
Medica, I., Sepčić, J. & Peterlin, B. (2007) Woodhouse-Sakati Syndrome: case report and symptoms review. Genetic Counseling, 18 (2), 227-231.
@article{article, author = {Medica, Igor and Sep\v{c}i\'{c}, Juraj and Peterlin, Borut}, year = {2007}, pages = {227-231}, keywords = {Woodhouse-Sakati Syndrome}, journal = {Genetic Counseling}, volume = {18}, number = {2}, issn = {1015-8146}, title = {Woodhouse-Sakati Syndrome: case report and symptoms review}, keyword = {Woodhouse-Sakati Syndrome} }
@article{article, author = {Medica, Igor and Sep\v{c}i\'{c}, Juraj and Peterlin, Borut}, year = {2007}, pages = {227-231}, keywords = {Woodhouse-Sakati Syndrome}, journal = {Genetic Counseling}, volume = {18}, number = {2}, issn = {1015-8146}, title = {Woodhouse-Sakati Syndrome: case report and symptoms review}, keyword = {Woodhouse-Sakati Syndrome} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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