Rommen Mueller Sybert Syndrome Latest Advances

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Published: November 23, 2023

Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals

Journal: Journal of clinical research in pediatric endocrinology

Published: October 17, 2023

Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children.

Journal: Journal of endocrinological investigation

Published: July 14, 2023

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De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.

De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.

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

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.

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.

PTPN11 and FLNA variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features.

PTPN11 and FLNA variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features.

Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals

Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals

Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children.

Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children.