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

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

American journal of medical genetics. Part A - 1 Dec 2016

Khan Saadullah, Ullah Imran, Nasir Abdul, Meijer C Arnoud, Laurense-Bik Marlies, den Dunnen Johan T, Ruivenkamp Claudia A L, Hoffer Mariëtte J V, Santen Gijs W E, Ahmad Wasim

Abstract excerpt

Postaxial polydactyly (PAP) is one of the most common congenital malformations observed in the general population. However, it can also occur as part of a syndrome. Unbiased genetic screening techniques such as exome sequencing are highly appropriate methods to provide a molecular diagnosis in patients with polydactyly due to the large number of mutated genes associated with it. The present study describes a...

Read the complete abstract on PubMed

Topics

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

Share to Cerebellum
Share to Ciliopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Abnormalities

Share to Kidney Diseases, Cystic

Share to Pakistan

Share to Radiography

Share to Retina

Source

Identifiers

PMID: 27570071
DOI: 10.1002/ajmg.a.37934

Genes

MKS1

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

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.PMID 27570071Read ↗

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.Semantic proximity Read ↗

Clinical and genetic characteristics of 36 children with Joubert syndromeSemantic proximity Read ↗

Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.Semantic proximity Read ↗

Novel ocular feature in oculoskeletodental syndrome: high axial myopia and megalocornea in a child with a homozygous PIK3C2A variant.Semantic proximity Read ↗

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.Semantic proximity Read ↗

Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.Semantic proximity Read ↗

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.Semantic proximity Read ↗

Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders.Semantic proximity Read ↗

Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.Semantic proximity Read ↗

Identification of two novel mutations in three Chinese families with Kallmann syndrome using whole exome sequencing.Semantic proximity Read ↗

Novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome.Semantic proximity Read ↗

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.Semantic proximity Read ↗

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