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

Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome.

Calcified tissue international - 1 Nov 2021

Al Kaissi Ali, Misof Barbara M, Laccone Franco, Blouin Stéphane, Roschger Paul, Kircher Susanne G, Shboul Mohammad, Mindler Gabriel T, Girsch Werner, Ganger Rudolf

Abstract excerpt

Proteus syndrome is a rare genetic disorder, which is characterized by progressive, segmental, or patchy overgrowth of diverse tissues of all germ layers, including the skeleton. Here, we present a 9-year-old girl with a somatic-activating mutation (c.49G > A; p.Glu17Lys) in AKT1 gene in a mosaic status typical for Proteus syndrome. She presented with hemihypertrophy of the right lower limb and a "moccasin"...

Read the complete abstract on PubMed

Topics

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

Share to Biopsy
Share to Bone and Bones

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bone Density

Share to Phenotype

Source

Identifiers

PMID: 34003338
DOI: 10.1007/s00223-021-00862-z

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

Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome.PMID 34003338Read ↗

Radiologic manifestations of Proteus syndrome.Semantic proximity Read ↗

Proteus syndrome review: molecular, clinical, and pathologic features.Semantic proximity Read ↗

A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation.Semantic proximity Read ↗

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

Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluationSemantic proximity Read ↗

Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management.Semantic proximity Read ↗

Lack of mutation-histopathology correlation in a patient with Proteus syndrome.Semantic proximity Read ↗

Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings.Semantic proximity Read ↗

A Case Report of a Mild and Atypical Presentation of Proteus Syndrome.Semantic proximity Read ↗

Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological AssociationsSemantic proximity Read ↗

[Morphological characteristics of osteopetrosis].Semantic proximity Read ↗

Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations.Semantic proximity Read ↗

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