Short Philtrum Latest Advances

Yunis Varon Syndrome: Characteristic Limb Abnormalities and Refining of the Phenotype.

Journal: American journal of medical genetics. Part A

Published: March 06, 2026

Case Report: Rare triple-line chromosome 9 mosaicism (47,XX,+del(9)(q13)/47,XX,+9/46,XX) associated with severe neurodevelopmental impairment and congenital anomalies.

Journal: Frontiers in genetics

Published: December 17, 2025

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.

Journal: Frontiers in endocrinology

Published: February 25, 2025

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.

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.

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.

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.

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.

Journal: Frontiers in genetics

Published: May 10, 2022

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.

Journal: Genes

Published: November 04, 2021

Short Philtrum Latest Advances

Find the Latest Research About Short Philtrum

Yunis Varon Syndrome: Characteristic Limb Abnormalities and Refining of the Phenotype.

Yunis Varon Syndrome: Characteristic Limb Abnormalities and Refining of the Phenotype.

Case Report: Rare triple-line chromosome 9 mosaicism (47,XX,+del(9)(q13)/47,XX,+9/46,XX) associated with severe neurodevelopmental impairment and congenital anomalies.

Case Report: Rare triple-line chromosome 9 mosaicism (47,XX,+del(9)(q13)/47,XX,+9/46,XX) associated with severe neurodevelopmental impairment and congenital anomalies.

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.

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.

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

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

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.

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

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

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.

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.

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.

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.

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.