Phenotype variability in Hajdu-Cheney syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference14 articles.
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2. Hajdu-cheney syndrome, a disease associated with NOTCH2 mutations;Canalis;Curr. Osteoporos. Rep.,2016
3. Severe Hajdu-Cheney syndrome with upper airway obstruction;Crifasi;Am. J. Med. Genet.,1997
4. Serpentine fibula – polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity?;Exner;Eur. J. Pediatr.,1988
5. Serpentine fibula syndrome: a variant clinical presentation of Hajdu-Cheney syndrome?;Fryns;Clin. Dysmorphol.,1997
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1. Acroosteólisis y dismorfia facial: un nuevo caso de síndrome de Hajdu-Cheney;Reumatología Clínica;2023-11
2. Acroosteolysis and facial dysmorphia: a new case of Hajdu-Cheney syndrome;Reumatología Clínica (English Edition);2023-11
3. NOTCH2 related disorders: Description and review of the fetal presentation;European Journal of Medical Genetics;2023-07
4. Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report;Journal of Clinical Medicine;2022-09-02
5. Nursing Care Plan for Patients with Hajdu–Cheney Syndrome;International Journal of Environmental Research and Public Health;2022-06-18
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