Hajdu-Cheney Syndrome Latest Advances

Complete phenotyping of the pathogenic genotype of the NTRK1 gene in early childhood.

Journal: Laboratory medicine

Published: December 16, 2025

Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4.

Journal: BMJ case reports

Published: December 12, 2025

Vanishing Bones and Stubborn Joints: Unravelling the Enigma of Multicentric Osteolysis, Nodulosis, and Arthropathy Syndrome.

Journal: Cureus

Published: October 14, 2025

Band Acro-Osteolysis as a Less Common Radiologic Pattern in Systemic Scleroderma: A Case Report.

Journal: Clinical medicine insights. Case reports

Published: October 09, 2025

Peripheral neuron phenotypes of familial dysautonomia are rescued by AAV-mediated gene therapy.

Journal: Research square

Published: October 03, 2025

Unraveling the Overlapping Spectrum of Hereditary Neuropathies: Clinical and Genetic Insights From the UAE.

Journal: Cureus

Published: September 30, 2025

AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in a mouse model of familial dysautonomia.

Journal: bioRxiv : the preprint server for biology

Published: September 02, 2025

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia.

Journal: Annals of clinical and translational neurology

Published: August 21, 2025

Hereditary Sensory and Autonomic Neuropathy Type 2: A Case Report and a Review of the Literature.

Journal: Brain sciences

Published: August 20, 2025

A Rare Co-Occurrence of Gastric Heterotopia and Autonomic Nervous System Dysfunction: An Attempt to Explain If There Is a Need to Explore Possible Syndromic Link.

Journal: Journal of medical cases

Published: August 09, 2025

Temporal Bone CT Findings in Hajdu-Cheney Syndrome: Case Report with Review of the Literature.

Journal: AJNR. American journal of neuroradiology

Published: August 07, 2025

Hajdu-Cheney Syndrome with Fatal Progressive Basilar Invagination: Illustrative Case.

Journal: Children (Basel, Switzerland)

Published: July 31, 2025

Filters

Complete phenotyping of the pathogenic genotype of the NTRK1 gene in early childhood.

Complete phenotyping of the pathogenic genotype of the NTRK1 gene in early childhood.

Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4.

Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4.

Vanishing Bones and Stubborn Joints: Unravelling the Enigma of Multicentric Osteolysis, Nodulosis, and Arthropathy Syndrome.

Vanishing Bones and Stubborn Joints: Unravelling the Enigma of Multicentric Osteolysis, Nodulosis, and Arthropathy Syndrome.

Band Acro-Osteolysis as a Less Common Radiologic Pattern in Systemic Scleroderma: A Case Report.

Band Acro-Osteolysis as a Less Common Radiologic Pattern in Systemic Scleroderma: A Case Report.

Peripheral neuron phenotypes of familial dysautonomia are rescued by AAV-mediated gene therapy.

Peripheral neuron phenotypes of familial dysautonomia are rescued by AAV-mediated gene therapy.

Unraveling the Overlapping Spectrum of Hereditary Neuropathies: Clinical and Genetic Insights From the UAE.

Unraveling the Overlapping Spectrum of Hereditary Neuropathies: Clinical and Genetic Insights From the UAE.

AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in a mouse model of familial dysautonomia.

AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in a mouse model of familial dysautonomia.

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia.

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia.

Hereditary Sensory and Autonomic Neuropathy Type 2: A Case Report and a Review of the Literature.

Hereditary Sensory and Autonomic Neuropathy Type 2: A Case Report and a Review of the Literature.

A Rare Co-Occurrence of Gastric Heterotopia and Autonomic Nervous System Dysfunction: An Attempt to Explain If There Is a Need to Explore Possible Syndromic Link.

A Rare Co-Occurrence of Gastric Heterotopia and Autonomic Nervous System Dysfunction: An Attempt to Explain If There Is a Need to Explore Possible Syndromic Link.

Temporal Bone CT Findings in Hajdu-Cheney Syndrome: Case Report with Review of the Literature.

Temporal Bone CT Findings in Hajdu-Cheney Syndrome: Case Report with Review of the Literature.

Hajdu-Cheney Syndrome with Fatal Progressive Basilar Invagination: Illustrative Case.

Hajdu-Cheney Syndrome with Fatal Progressive Basilar Invagination: Illustrative Case.