congenital muscular dystrophy (cmd)  is an umbrella term collecting a heterogeneous groups of genetic disorders , mostly with autosomal recessive mode of inheritance , and are characterized by muscle weakness since birth or in early infancy , with a dystrophic pattern on muscle biopsy . these children are usually hypotonic and may have joint contractures . the serum creatine kinase level can be...

cystic fibrosis is an inheritant autosomal recessive disease. it is associated with mutations in cystic fibrosis trans regulator gene (cftr) and has different presentations.we report two 2 month old female patients, products of a twin delivery presented with anemia, edema, hypoalbuminemia and pneumonia.after some work ups, diagnosis of cystic fibrosis was confirmed. this is an uncommon and inte...

A recent study published in Nature Genetics, describes a genetic link to obesity in humans discovered by studying obese children in Pakistan. One of the reasons that the genetics were uncovered in this region is because of the frequency of consanguinous (within the family) relationships. The genes that were identified are recessive mutations and exhibit a trait when two copies of the mutation a...

An autosomal recessive juvenile-onset form of Parkinson's disease (AR-JP) is caused by loss-of-function mutations of the parkin gene, which encodes a ubiquitin-protein ligase. Three recent reports demonstrate that parkin can protect neurons from diverse cellular insults, including alpha-synuclein toxicity, proteasomal dysfunction, Pael-R accumulation, and kainate-induced excitotoxicity. These f...

Annals of Human GeneticsVolume 87, Issue 1-2 COVER IMAGEFree Access Cover Image, Volume 1–2 First published: 01 March 2023 https://doi.org/10.1111/ahg.12504AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text full-text accessPlease review our Terms and Conditions Use check box below share version article.I have read accept the Wiley...

Polycystic kidney disease (PKD) describes a heterogeneous collection of disorders that differ significantly with respect to their etiology and clinical presentation. They share, however, abnormal tubular morphology as a common feature, leading to the hypothesis that their respective gene products may function cooperatively in a common pathway to maintain tubular integrity. To study the pathobio...

background and aim kindler syndrome is a subtype of epidermolysis bullosa with gingival fragility and periodontitis as common oral manifestations of these patients. because of the early onset and rapid progression of periodontitis in these patients, clinical management of their oral status is an important aspect of their multidisciplinary care and treatment case presentation we present a succes...