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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype

Fig. 1

a. Family pedigree: the proband is highlighted by the arrow; LIG4 and LRIG2 chromatograms are shown for the homozygous proband; (b). LIG4 protein domains: the Y438H mutation is located in the adenylation domain (modified from Chistiakov [21]); (c). Pictures of the patient showing generalized hyposomia, facial dysmorphic features, but not inverted smile, and nail dystrophy

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