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

Expanding the phenotype of IFAP/BRESECK syndrome: a new case with severe hypogammaglobulinemia.

European journal of medical genetics - 1 Nov 2013

Corujeira Susana, Águeda Sofia, Monteiro Georgina, Canelhas Aurea, Sampaio Mafalda, Rocha Ruben, Leão Miguel

Abstract excerpt

The ichthyosis follicular with atrichia and photophobia syndrome (IFAP) is a rare X-linked multiple congenital malformation syndrome. Some male patients have additional features including brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies and kidney dysplasia/hypoplasia (BRESEK syndrome) sometimes associated with Hirschsprung disease and cleft palate or...

Read the complete abstract on PubMed

Topics

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

Share to Agammaglobulinemia
Share to Congenital Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ectodermal Dysplasia

Share to Genetic Diseases, X-Linked

Share to Hirschsprung Disease

Share to Intellectual Disability

Share to Metalloendopeptidases

Source

Identifiers

PMID: 24090718
DOI: 10.1016/j.ejmg.2013.09.005

Genes

MBTPS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the phenotype of IFAP/BRESECK syndrome: a new case with severe hypogammaglobulinemia.PMID 24090718Read ↗

MBTPS2 mutation causes BRESEK/BRESHECK syndrome.Semantic proximity Read ↗

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.Semantic proximity Read ↗

IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient.Semantic proximity Read ↗

Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient.Semantic proximity Read ↗

A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation.Semantic proximity Read ↗

A novel MBTPS2 start codon mutation causes a mild ichthyosis follicularis with atrichia and photophobia phenotype.Semantic proximity Read ↗

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred.Semantic proximity Read ↗

A young girl with hypogammaglobulinemia and granulomatous hepatitis caused by a novel mutation in ZBTB24 gene: A case based analysis.Semantic proximity Read ↗

Deep phenotyping of ichthyosis follicularis with atrichia and photophobia syndrome associated with MBTPS2 mutations.Semantic proximity Read ↗

Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.Semantic proximity Read ↗

A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family.Semantic proximity Read ↗

Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings.Semantic proximity Read ↗

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