Sex-linked Disorders
Autism Spectrum Disorder
The Retinoblastoma Gene
X-linked Traits
Pleiotropy
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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
Doreen Crawford, Annette Dearmun1
1Oxford University Hospitals NHS Trust.
Joubert syndrome is a rare neurological disorder impacting development, muscle tone, coordination, and eye movements. Early identification is key for managing this condition.
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