نتائج البحث

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.

• Authors : Pottie L; Adamo CS; Beyens A

• Source: American journal of human genetics [Am J Hum Genet] 2021 Dec 02; Vol. 108 (12), pp. 2386-2388.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605

تفاصيل العنوان

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.

• Authors : Pottie L; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium.

Subjects: Genetic Variation*; Collagen/Collagen/Collagen/*metabolism ; Cutis Laxa/Cutis Laxa/Cutis Laxa/*etiology

• Source: American journal of human genetics [Am J Hum Genet] 2021 Jun 03; Vol. 108 (6), pp. 1095-1114. Date of Electronic Publication: 2021 May 14.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

• Authors : Nguyen TTM; CHU-Sainte Justine Research Center, University of Montreal, Montreal, QC, Canada, H3T1C5.; Murakami Y

Subjects: Acyltransferases/Acyltransferases/Acyltransferases/*genetics ; Cell Adhesion Molecules/Cell Adhesion Molecules/Cell Adhesion Molecules/*genetics ; Cerebellar Diseases/Cerebellar Diseases/Cerebellar Diseases/*genetics

• Source: American journal of human genetics [Am J Hum Genet] 2020 Apr 02; Vol. 106 (4), pp. 484-495. Date of Electronic Publication: 2020 Mar 26.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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