Rommen Mueller Sybert Syndrome Latest Advances

A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights.

Journal: Human mutation

Published: July 08, 2025

Noonan syndrome with PTPN11 gene variant presenting as isolated short stature: a case report.

Journal: Translational pediatrics

Published: July 05, 2025

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.

Journal: American journal of medical genetics. Part A

Published: January 22, 2025

Growth and development patterns of Noonan syndrome and advances in the treatment of short stature

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: January 18, 2025

From growth hormone deficiency to Kleefstra-2 syndrome: diagnostic reassessment of treatment-refractory short stature.

Journal: Pediatric endocrinology, diabetes, and metabolism

Published: January 01, 2025

A Rare Cause of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome

Journal: Journal of clinical research in pediatric endocrinology

Published: September 23, 2024

Long-acting growth hormones: innovations in treatment and guidance on patient selection in pediatric growth hormone deficiency.

Journal: Annals of pediatric endocrinology & metabolism

Published: August 15, 2024

Cephalometric Evaluation of Children with Short Stature of Genetic Etiology: A Review.

Journal: Children (Basel, Switzerland)

Published: May 21, 2024

Variable expressivity of a transmitted pathogenic KAT6B variant.

Journal: European journal of medical genetics

Published: February 25, 2024

Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report

Journal: Journal of clinical research in pediatric endocrinology

Published: January 17, 2024

A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.

Journal: Genes

Published: December 04, 2023

Noonan Syndrome and Celiac Disease in an Adolescent With Short Stature and Delayed Puberty.

Journal: AACE clinical case reports

Published: November 29, 2023

Rommen Mueller Sybert Syndrome Latest Advances

Find the Latest Research About Rommen Mueller Sybert Syndrome

A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights.

A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights.

Noonan syndrome with PTPN11 gene variant presenting as isolated short stature: a case report.

Noonan syndrome with PTPN11 gene variant presenting as isolated short stature: a case report.

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.

Growth and development patterns of Noonan syndrome and advances in the treatment of short stature

Growth and development patterns of Noonan syndrome and advances in the treatment of short stature

From growth hormone deficiency to Kleefstra-2 syndrome: diagnostic reassessment of treatment-refractory short stature.

From growth hormone deficiency to Kleefstra-2 syndrome: diagnostic reassessment of treatment-refractory short stature.

A Rare Cause of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome

A Rare Cause of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome

Long-acting growth hormones: innovations in treatment and guidance on patient selection in pediatric growth hormone deficiency.

Long-acting growth hormones: innovations in treatment and guidance on patient selection in pediatric growth hormone deficiency.

Cephalometric Evaluation of Children with Short Stature of Genetic Etiology: A Review.

Cephalometric Evaluation of Children with Short Stature of Genetic Etiology: A Review.

Variable expressivity of a transmitted pathogenic KAT6B variant.

Variable expressivity of a transmitted pathogenic KAT6B variant.

Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report

Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report

A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.

A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.

Noonan Syndrome and Celiac Disease in an Adolescent With Short Stature and Delayed Puberty.

Noonan Syndrome and Celiac Disease in an Adolescent With Short Stature and Delayed Puberty.