Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Apr 2015

Whyte Michael P, Blythe Amanda, McAlister William H, Nenninger Angela R, Bijanki Vinieth N, Mumm Steven

Abstract excerpt

Lenz-Majewski hyperostotic dwarfism (LMHD) is an ultra-rare Mendelian craniotubular dysostosis that causes skeletal dysmorphism and widely distributed osteosclerosis. Biochemical and histopathological characterization of the bone disease is incomplete and nonexistent, respectively. In 2014, a publication concerning five unrelated patients with LMHD disclosed that all carried one of three heterozygous missense...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Amino Acids

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bone and Bones

Share to Bone Diseases, Developmental

Share to Homeostasis

Share to Intellectual Disability

Share to Phosphoserine

Share to Radiography

Source

Identifiers

PMID: 25363158
DOI: 10.1002/jbmr.2398

Genes

PTDSS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.PMID 25363158Read ↗

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.Semantic proximity Read ↗

De novo loss-of-function variant in PTDSS1 is associated with developmental delay.Semantic proximity Read ↗

Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.Semantic proximity Read ↗

Clinical and Oral Manifestations in a Patient with Lenz-Majewski Syndrome: A Rare Case Report.Semantic proximity Read ↗

Pediatric hypophosphatasia: avoid diagnosis missteps!Semantic proximity Read ↗

Taxonomy of rare genetic metabolic bone disorders.Semantic proximity Read ↗

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.Semantic proximity Read ↗

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.Semantic proximity Read ↗

Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century.Semantic proximity Read ↗

Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?Semantic proximity Read ↗

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.Semantic proximity Read ↗

Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.