All individuals with variants in gene ITGA3

3 entries on 1 page. Showing entries 1 - 3.
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00057911 - - 2-generation family, 2 affecteds, unaffected heterozygous carrier parents; II-1 has affected brother carrying the same variants F no Italy white >13y - - - ILNEB Lung: interstitial lung disease, severe air trapping. Severe and recurrent respiratory infections. Skin and annexes: sparse eyelashes, absent eyebrows, dysplastic nails, atrophic and erythematous areas on the legs. Severe growth delay (<3° centile) since Birth. normal GH values. NO renal alterations 2 2 Elisa Adele Colombo
00057916 - - affected sister PatII-1 M no Italy white >09y - - - ILNEB Lung: Interstitial lung disease, severe air trapping. Skin and annexes: pachyonychia at toe nails, erythemetous lesions on cheeks, chin, neck and limbs; sparse and rare eyebrown and eyelashes. Growth delay. NO renal alterations 2 1 Elisa Adele Colombo
00361998 Pat1AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - retinal disease - 1 1 LOVD
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