Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 01/07/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 136 publications

A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial Asymmetry.

A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial Asymmetry.

Journal: Clinical genetics
Published: August 29, 2025

A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review.

A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review.

Journal: Frontiers in endocrinology
Published: February 25, 2025

A Case of Penttinen Syndrome With Radiographic Acroosteolysis From Age 3 Years.

A Case of Penttinen Syndrome With Radiographic Acroosteolysis From Age 3 Years.

Journal: American journal of medical genetics. Part A
Published: January 20, 2025

Evaluation of the Mid and Lower Face in Three Females With Myhre Syndrome: Objective Methods to Supplement Subjective Assessment.

Evaluation of the Mid and Lower Face in Three Females With Myhre Syndrome: Objective Methods to Supplement Subjective Assessment.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: December 12, 2024

Aphallia in a patient with 9q34 duplication syndrome: a case report.

Aphallia in a patient with 9q34 duplication syndrome: a case report.

Journal: BMC urology
Published: December 02, 2024

De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report.

De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report.

Journal: Journal of medical case reports
Published: September 05, 2022

A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.

A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.

Journal: Molecular genetics & genomic medicine
Published: June 17, 2022

Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9.

Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9.

Journal: Frontiers in genetics
Published: May 10, 2022

Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation.

Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation.

Journal: Molecular genetics & genomic medicine
Published: November 30, 2021

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.

Journal: Genes
Published: November 04, 2021

Floating-Harbor Syndrome: A Rare Case Report.

Floating-Harbor Syndrome: A Rare Case Report.

Journal: International journal of clinical pediatric dentistry
Published: February 24, 2021

Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.

Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.

Journal: American journal of medical genetics. Part A
Published: December 06, 2020
Showing 1-12 of 136

Last Updated: 01/07/2026