M

 

Malan sendromu

Kalıtsal -AD

Sotos sendromunun fenotipi (fenotip 2)

Sotos sendromuna özgü tüm bulgular

Ek olarak göz bulguları (strabismus, nistagmus, optik disk hipoplazisi)

Tümör riski yok

 

  • Malan V, Rajan D, Thomas S, et al. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. American Journal of Human Genetics, 87(2):189–198, 2010

  • Klaassens M, Morrogh D, Rosser EM, et al. Malan syndrome: Sotoslike overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. European Journal of Human Genetics, 23(5):610–615, 2015

  • Edmondson AC, Kalish JM. Overgrowth Syndromes. Journal of Pediatric Genetics, 4:136–143, 2015