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Limb-mammary sendromu

Kalıtsal - AD

TP63 mutasyonu

Ektodermal displaz bulguları

Meme/meme ucu hipoplazisi

Ekstremite anomalileri

Oligodaktili

Sindaktili

Tırnak anomalileri

Yarık damak

Yarık dudak

Uvula bifida

Hipodonti

Gözyaşı kanalı atrezisi

hipohidroz

Bkz ADULT sendromu

 

  • van Bokhoven H, Hamel BC, Bamshad M, et al. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. American Journal of Human Genetics, 2001;69:481–492, 2001

  • Brunner HG, Hamel BC, Van Bokhoven H. P63 gene mutations and human developmental syndromes. American Journal of Medical Genetics, 112(3):284-290, 2002

  • Brunner HG, Hamel BC, Van Bokhoven H. The p63 gene in EEC and other syndromes. Journal of Medical Genetics, 39(6):377-381, 2002

  • Sutton VR, van Bokhoven H. TP63-related disorders, In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. University of Washington, Seattle, 2010

 

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