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Last Updated: 10/31/2025

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Found 621 publications

Early Manifestation of McCune-Albright Syndrome in a 32-Month-Old Female: A Rare Case Report.

Early Manifestation of McCune-Albright Syndrome in a 32-Month-Old Female: A Rare Case Report.

Journal: Journal of investigative medicine high impact case reports
Published: August 22, 2025

Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.

Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.

Journal: Human molecular genetics
Published: March 09, 2025

Incidental finding of a pathogenic mosaicism in the NF1 gene detected by near infrared fundus imaging - a case report.

Incidental finding of a pathogenic mosaicism in the NF1 gene detected by near infrared fundus imaging - a case report.

Journal: Ophthalmic genetics
Published: December 16, 2024

Jaffe-Campanacci Syndrome: A Case Report and Review of the Literature.

Jaffe-Campanacci Syndrome: A Case Report and Review of the Literature.

Journal: Cureus
Published: December 14, 2024

Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

Journal: American journal of medical genetics. Part A
Published: November 20, 2024

A Novel Compound Nonsense Variant in CYP27B1 Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family.

A Novel Compound Nonsense Variant in CYP27B1 Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family.

Journal: Diseases (Basel, Switzerland)
Published: September 09, 2024

Germline mismatch repair gene mutations in children with tumors: a case series from two centers.

Germline mismatch repair gene mutations in children with tumors: a case series from two centers.

Journal: Translational pediatrics
Published: September 06, 2024

Fanconi Anaemia associated with café au lait spots: A rare case report.

Fanconi Anaemia associated with café au lait spots: A rare case report.

Journal: JPMA. The Journal of the Pakistan Medical Association
Published: August 20, 2024

The treatment of infantile giant café au lait spot using golden parameter therapy with a high fluence 1064-nm Q-switched Nd: YAG laser.

The treatment of infantile giant café au lait spot using golden parameter therapy with a high fluence 1064-nm Q-switched Nd: YAG laser.

Journal: The Journal of dermatological treatment
Published: August 12, 2024

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Journal: European journal of pediatrics
Published: August 07, 2024

Clinical and genetic analysis of three children with Legius syndrome due to variants of SPRED1 gene

Clinical and genetic analysis of three children with Legius syndrome due to variants of SPRED1 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 03, 2024

Precocious puberty in the McCune-Albright Syndrome: a case report

Precocious puberty in the McCune-Albright Syndrome: a case report

Journal: The Pan African medical journal
Published: July 24, 2024
Showing 1-12 of 621

Last Updated: 10/31/2025