Bartsocas-Papas Syndrome Latest Advances

A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.

Journal: American journal of medical genetics. Part A

Published: October 27, 2020

Periderm: Life-cycle and function during orofacial and epidermal development.

Journal: Seminars in cell & developmental biology

Published: June 26, 2017

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

Journal: American journal of medical genetics. Part A

Published: May 23, 2017

Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.

Journal: American journal of medical genetics. Part A

Published: October 09, 2014

Bartsocas-Papas Syndrome: A Case Report and Review of the Literature.

Journal: Annals of plastic surgery

Published: October 03, 2014

Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.

Journal: American journal of medical genetics. Part A

Published: July 28, 2014

Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.

Journal: American journal of medical genetics. Part A

Published: December 31, 2012

Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome.

Journal: Clinical genetics

Published: October 16, 2012

Popliteal pterygium syndrome: orofacial and general features.

Journal: Journal of the Indian Society of Pedodontics and Preventive Dentistry

Published: October 22, 2011