Hajdu-Cheney Syndrome Latest Advances

Exudative variant of non-proliferative MacTel type 2A in a SPTLC2 carrier with hereditary sensory and autonomic neuropathy.

Journal: BMJ case reports

Published: June 19, 2026

Health Equality and Socioeconomic Impact of Hereditary Sensory Neuropathy Type 1 (HSN1) in the UK.

Journal: Journal of the peripheral nervous system : JPNS

Published: April 21, 2026

Early clinical diagnosis of congenital insensitivity to pain with anhidrosis in an infant: a case report.

Journal: Frontiers in pediatrics

Published: April 01, 2026

Long-Term Successful Nonoperative Management of a Displaced Pediatric Odontoid Fracture in Hereditary Sensory and Autonomic Neuropathy Type IV: A Case Report.

Journal: JBJS case connector

Published: March 21, 2026

Hajdu-Cheney Syndrome in a Two-Generation Family: Longitudinal Skeletal Progression and Differential Therapeutic Responses in a Mother and Her Son.

Journal: International journal of molecular sciences

Published: March 10, 2026

ELP1 Gene Augmentation Restores Visual Function in a Mouse Model of Familial Dysautonomia.

Journal: bioRxiv : the preprint server for biology

Published: January 16, 2026

Hajdu-Cheney Syndrome With Coexisting Rheumatoid Arthritis: A Diagnostic Challenge.

Journal: Cureus

Published: January 14, 2026

ELP1 gene augmentation restores visual function in a mouse model of familial dysautonomia.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: January 12, 2026

Atypical Early Presentation of Multicentric Carpotarsal Osteolysis: Ankle Pain and Cavovarus Deformity Without Osteolysis.

Journal: Cureus

Published: January 06, 2026

The neuroimmune axis and chronic pain disorders.

Journal: iScience

Published: January 05, 2026

Disruption of afferent neural circuits leads to arrhythmia in the animal model of hereditary sensory and autonomic neuropathy 6.

Journal: Frontiers in neural circuits

Published: December 29, 2025

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

Journal: Laboratory medicine

Published: December 16, 2025

Hajdu-Cheney Syndrome Latest Advances

Find the Latest Research About Hajdu-Cheney Syndrome

Exudative variant of non-proliferative MacTel type 2A in a SPTLC2 carrier with hereditary sensory and autonomic neuropathy.

Exudative variant of non-proliferative MacTel type 2A in a SPTLC2 carrier with hereditary sensory and autonomic neuropathy.

Health Equality and Socioeconomic Impact of Hereditary Sensory Neuropathy Type 1 (HSN1) in the UK.

Health Equality and Socioeconomic Impact of Hereditary Sensory Neuropathy Type 1 (HSN1) in the UK.

Early clinical diagnosis of congenital insensitivity to pain with anhidrosis in an infant: a case report.

Early clinical diagnosis of congenital insensitivity to pain with anhidrosis in an infant: a case report.

Long-Term Successful Nonoperative Management of a Displaced Pediatric Odontoid Fracture in Hereditary Sensory and Autonomic Neuropathy Type IV: A Case Report.

Long-Term Successful Nonoperative Management of a Displaced Pediatric Odontoid Fracture in Hereditary Sensory and Autonomic Neuropathy Type IV: A Case Report.

Hajdu-Cheney Syndrome in a Two-Generation Family: Longitudinal Skeletal Progression and Differential Therapeutic Responses in a Mother and Her Son.

Hajdu-Cheney Syndrome in a Two-Generation Family: Longitudinal Skeletal Progression and Differential Therapeutic Responses in a Mother and Her Son.

ELP1 Gene Augmentation Restores Visual Function in a Mouse Model of Familial Dysautonomia.

ELP1 Gene Augmentation Restores Visual Function in a Mouse Model of Familial Dysautonomia.

Hajdu-Cheney Syndrome With Coexisting Rheumatoid Arthritis: A Diagnostic Challenge.

Hajdu-Cheney Syndrome With Coexisting Rheumatoid Arthritis: A Diagnostic Challenge.

ELP1 gene augmentation restores visual function in a mouse model of familial dysautonomia.

ELP1 gene augmentation restores visual function in a mouse model of familial dysautonomia.

Atypical Early Presentation of Multicentric Carpotarsal Osteolysis: Ankle Pain and Cavovarus Deformity Without Osteolysis.

Atypical Early Presentation of Multicentric Carpotarsal Osteolysis: Ankle Pain and Cavovarus Deformity Without Osteolysis.

The neuroimmune axis and chronic pain disorders.

The neuroimmune axis and chronic pain disorders.

Disruption of afferent neural circuits leads to arrhythmia in the animal model of hereditary sensory and autonomic neuropathy 6.

Disruption of afferent neural circuits leads to arrhythmia in the animal model of hereditary sensory and autonomic neuropathy 6.

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.