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    • Growth Hormone Deficiency In A Child With Neurofibromatosis-Noonan Syndrome 

      Vurallı, Doğuş; Gönç, Nazlı; Vidaud, Dominique; Özön, Alev; Alikaşifoğlu, Ayfer; Kandemir, Nurgün (2016)
      Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which shows the features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS). While growth hormone deficiency (GHD) has been relatively frequently ...

    • Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene 

      Alikaşifoğlu, Ayfer; Vurallı, Doğuş; Hiort, Olaf; Gönç, Nazlı; Özön, Alev; Kandemir, Nurgün (2015)
      17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) is an important enzyme involved in the final steps of androgen synthesis and is required for the development of normal male external genitalia. 46,XY individuals with ...