Fig. 1: Clinical photographs of patients with the ABL1 cardiac and skeletal malformation syndrome. | European Journal of Human Genetics

Fig. 1: Clinical photographs of patients with the ABL1 cardiac and skeletal malformation syndrome.

From: Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

Fig. 1

a Hands and feet of patients 1, 3, 5 and 6. Features include camptodactyly (patients 1, 3, 5 & 6), 5th finger clinodactyly (patients 3 and 6), bilateral Duputyen’s contracture (patient 5), and 2–3 toe syndactyly (patient 3). b Facial photographs of patients 3 (top) and 6 (bottom). Note the small chin, down-turned mouth, and long, narrow nose.

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