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AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
congenital heart defect
2019
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LTBP2-related “Marfan-like” phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant

pubblicato su: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 2019

Morlino Silvia, Alesi Viola, Calì Federica, Lepri Francesca Romana, Secinaro Aurelio, Grammatico Paola, Novelli Antonio, Drago Fabrizio, Castori Marco, Baban Anwar

Familial aggregation of “apple peel” intestinal atresia and cardiac left-sided obstructive lesions: a possible causal relationship with NOTCH1 gene mutations

pubblicato su: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 2019

Digilio M. C., Magliozzi M., Di Pede A., Valfre L., Dentici M. L., Auriti C., Marino B., Novelli A., Dallapiccola B.

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(-) Remove congenital heart defect filter congenital heart defect
connective tissue (1) Apply connective tissue filter
genetics (1) Apply genetics filter
Genetics (clinical) (1) Apply Genetics (clinical) filter
intestinal atresia (1) Apply intestinal atresia filter
left-sided obstruction (1) Apply left-sided obstruction filter
LTBP2 (1) Apply LTBP2 filter
Marfan syndrome (1) Apply Marfan syndrome filter
NOTCH1 gene (1) Apply NOTCH1 gene filter
polyvalvular heart dysplasia (1) Apply polyvalvular heart dysplasia filter
vascular anomaly (1) Apply vascular anomaly filter

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