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

A family of Melnick-Needles syndrome: a case report.

BMC pediatrics - 19 Aug 2020

Oh Chi Hoon, Lee Chang Ho, Kim So Young, Lee So-Young, Jun Hak Hoon, Lee Soonchul

Abstract excerpt

BACKGROUND: Melnick-Needles syndrome (MNS) is an extremely rare osteochondrodysplasia caused by a mutation of FLNA, the gene encoding filamin A. MNS is inherited in an X-linked dominant manner. In this study, we describe three members of the same family with MNS, who exhibited different phenotypic severity despite having an identical FLNA gene mutation. CASE PRESENTATION: The patient was 16 months old, with a...

Read the complete abstract on PubMed

Topics

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

Share to Infant
Share to Mutation
Share to Osteochondrodysplasias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Exome Sequencing

Share to Filamins

Source

Open in PubMed Open full text

Identifiers

PMID: 32814550
DOI: 10.1186/s12887-020-02288-2
PMCID: PMC7436951

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A family of Melnick-Needles syndrome: a case report.PMID 32814550Read ↗

FLNA Variants Related to Melnick-Needles Syndrome: Two Mexican Case Reports and a Comprehensive Variant Review.Semantic proximity Read ↗

A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males.Semantic proximity Read ↗

Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.Semantic proximity Read ↗

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.Semantic proximity Read ↗

Melnick-Needles syndrome associated with growth hormone deficiency: a case report.Semantic proximity Read ↗

Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.Semantic proximity Read ↗

The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.Semantic proximity Read ↗

Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.Semantic proximity Read ↗

Melnick-Needles syndrome and GH-deficiency: a possible new association feature.Semantic proximity Read ↗

A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders.Semantic proximity Read ↗

[Frontometaphyseal dysplasia 1 caused by variant of FLNA gene in a case].Semantic proximity Read ↗

Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick-Needles syndrome (MNS) in a family with recurrent miscarriage.Semantic proximity Read ↗

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