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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

Fig. 1

Pedigrees of the family, Sanger sequencing confirmation and Optical coherence tomography of the proband. a Pedigrees of the quartet families. b Optical coherence tomography of the proband reveals atrophy of the retina with epiretinal membrane and retina pigment epithelium irregularly arrangement. c Sanger sequencing confirmation in the quartet family. Heterozygous nucleotide and amino acid substitutions are shown at the top. Presence of the mutated alleles is indicated by a red asterisk

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BMC Medical Genetics

ISSN: 1471-2350

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