Single Gene Disorders

 

 

Inherited Tumour Syndromes

 

Cystic Fibrosis (CF)

CHARGE

Ehlers-Danlos (EDS)

Gaucher

Glycogenoses

Hereditary Spherocytosis

Kallmann

Marfan

Mucopolysacharidoses (MPS)

Primary Ciliary Dyskinesia

Rett

Sickle Cell Disease

Smith-Lemli-Opitz (SLOS)

Spinal Muscular Atrophy (SMA)

 

 

 

 

Epidemiology and Etiology:

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Common sites:

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Gross features:

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Histologic features:

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Immunophenotype:

Marker:

Sensitivity:

Specificity:

 

 

 

 

Molecular features:

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Other features:

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References:

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