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

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.

American journal of human genetics - 12 Nov 2010

Sirmaci Asli, Walsh Tom, Akay Hatice, Spiliopoulos Michail, Sakalar Yıldırım Bayezit, Hasanefendioğlu-Bayrak Aylin, Duman Duygu, Farooq Amjad, King Mary-Claire, Tekin Mustafa

Abstract excerpt

Distinctive facial features consisting of hypertelorism, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, periumbilical defects, and skeletal anomalies are seen in autosomal-recessive Carnevale, Malpuech, Michels, and oculo-skeletal-abdominal (OSA) syndromes. The gene or genes responsible for these syndromes were heretofore unknown. We report on three individuals from two consanguineous Turkish...

Read the complete abstract on PubMed

Topics

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

Share to Blepharoptosis
Share to Craniosynostoses

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cryptorchidism

Share to Eye Abnormalities

Share to Hearing Disorders

Share to Hip Dislocation, Congenital

Share to Mannose-Binding Protein-Associated Serine Proteases

Share to Strabismus

Source

Open in PubMed Open full text

Identifiers

PMID: 21035106
DOI: 10.1016/j.ajhg.2010.09.018
PMCID: PMC2978960

Genes

MASP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.PMID 21035106Read ↗

Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.Semantic proximity Read ↗

Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotype.Semantic proximity Read ↗

Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.Semantic proximity Read ↗

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.Semantic proximity Read ↗

Further phenotypic delineation of Alazami syndrome.Semantic proximity Read ↗

CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia.Semantic proximity Read ↗

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.Semantic proximity Read ↗

Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.Semantic proximity Read ↗

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.Semantic proximity Read ↗

Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism.Semantic proximity Read ↗

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

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.Semantic proximity Read ↗

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