Weill-Marshesani sendromu
Kalıtsal - AR/AD
Gelişme geriliği
Kaslı görünüm
Brakisefali
Orbitalar sığ
Glokom
Lens ektopisi
Göz ön kamerası sığ
Katarakt
Görme sorunları
Burun yayvan
Maksilla hipoplazisi (mikrognati)
Dar damak
Dişlerde malformasyonlar
Kalp kapaklarında darlık/yetmezlik
Ventriküler septum defekti
Uzun kemiklerin korteksleri ince
Kostalar kalın
Eklem hareketleri kısıtlı
Skolyoz
Parmak anomalileri
Deri kalın
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Wirtz MK, Samples JR, Kramer PL, et al. Weill-Marchesani syndrome: possible linkage of the autosomal dominant form to 15q21.1. American Journal of Medical Genetics, 65: 68-75, 1996
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Faivre L, Megarbane A, Alswaid A, et al. Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. Human Genetics, 110: 366-370, 2002
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Faivre L, Gorlin RJ, Wirtz MK, et al. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. Journal of Medical Genetics, 40: 34-36, 2003
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Kutz WE, Wang LW, Dagoneau N, et al. Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. Human Mutation, 29: 1425-1434, 2008
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Morales J, Al-Sharif L, Khalil DS, et al. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. American Journal of Human Genetics, J. Hum. Genet. 85: 558-568, 2009