Alagille syndrome- A rare autosomal dominant disorder [PDF]
Al Ameen Journal of Medical Sciences, 2018 Rizwan-U-Zama +4 more
doaj
A Case of Horseshoe Kidney and Autosomal Dominant Polycystic Kidney Disease with <i>PKD1</i> Gene Mutation. [PDF]
J Clin MedKim H, Lee SJ, Kim W.
europepmc +1 more source
Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy.
, 1991 Elisabeth Tournier‐Lasserve +3 more
openalex +1 more source
Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis. [PDF]
, 1992 Gregory M. Pastores +5 more
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New insights into applications of base editor in hereditary disorders
Interdisciplinary Medicine, EarlyView.Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai +8 more
wiley +1 more source
Renal ammonia in autosomal dominant polycystic kidney disease
, 1994 Vicente E. Torres +4 more
openalex +1 more source
Subtotal Lipodystrophy with Autosomal Dominant Inheritance [PDF]
, 1993 June K. Lloyd +2 more
openalex +1 more source
Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature
Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi +13 more
wiley +1 more source
A novel GJA3 mutation causing autosomal dominant congenital perinuclear cataracts. [PDF]
BMC OphthalmolZhu Y, Li N, Yao K, Wang W, Li J.
europepmc +1 more source
Genital Crohn's disease in pediatrics and genetic associations
JPGN Reports, EarlyView.Abstract Genital edema is a rare presentation of Crohn's disease (CD), also known as metastatic CD (MCD). This may precede, co‐occur with, or follow gastrointestinal symptoms and present a diagnostic challenge. We aimed to characterize the features, clinical courses, pathogenesis, and outcomes of patients with MCD to increase understanding and promote ...
Erica Chang +5 more
wiley +1 more source