Fig. 1: Phenotypic and clinical findings in the patient. | Human Genome Variation

Fig. 1: Phenotypic and clinical findings in the patient.

From: Juvenile/adult-type galactosialidosis with a homozygous CTSA variant without consanguinity

Fig. 1

A Bilateral cherry-red spots observed on funduscopy (arrows). B Angiokeratomas on the face (left) and palms (right). C Scoliosis involving the thoracic (top) and lumbar (bottom) spine. D Kyphosis of the radius and ulna. E Peripheral blood smear showing vacuolated lymphocytes. F Growth chart demonstrating growth impairment after age 13 years. Note that some data points are missing.

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