Science Daily

New gene discovered for recessive form of brittle bone disease

Researchers have discovered the third in a sequence of genes that accounts for previously unexplained forms of osteogenesis imperfecta (OI), a genetic condition that weakens bones, results in frequent ...
Nature

An autosomal recessive form of Alagille-like syndrome that is not linked to JAG1

Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...
JSTOR Daily

DFNB44, a Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus, Maps to Chromosome 7p14.1-q11.22

The genetic etiology for many forms of hearing impairment (HI) is very diverse. Non-syndromic HI (NSHI) is one of the most heterogeneous traits known. Autosomal recessive forms of prelingual HI ...
Nature

A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome

This study was approved by the Ethics Committees of the Universities of Erlangen-Nürnberg, Leipzig, and Oxford. Informed consent of patient 1 (P1) and both parents (including their consent for P2) was ...
JSTOR Daily

Mutations of CD40 Gene Cause an Autosomal Recessive Form of Immunodeficiency with Hyper IgM

CD40 is a member of the tumor necrosis factor receptor superfamily, expressed on a wide range of cell types including B cells, macrophages, and dendritic cells. CD40 is the receptor for CD40 ligand ...
EurekAlert!

Second gene discovered for recessive form of brittle bone disease

NIH/Eunice Kennedy Shriver National Institute of Child Health and Human Development Researchers at the National Institutes of Health and other institutions have found a second genetic defect that ...