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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management

Fig. 1

a Facial presentation showing a wide jaw, significantly closed palpebral fissure, and mildly violaceous color over the cheeks and forehead. Taken at the age of 55 years old. b Familial pedigree of the patient: 5429 Father: Nucleotide: NM_000543.4:c.[96G > A];[96=]; Protein: NP_000534.3:p.[(Trp32Ter)];[Trp32=]; rs3838786: five/six. 5430 Mother: NM_000543.4:c.[84delC];[84=]; NP_000534.3:p.[(Gly29AspfsTer48)];[Gly29=]; rs3838786: six/six. 5431 Index case: NM_000543.4:c.[84delC];[96G > A]; NP_000534.3:p.[(Gly29AspfsTer48)];[(Trp32Ter)]; rs3838786: six/six. 5432 Sister 1: NM_000543.4:c.[84delC];[84=]; NP_000534.3:p.[(Gly29AspfsTer48)];[Gly29=]; rs3838786: five/six. 5433 Sister 2: NM_000543.4:c.[96G > A];[96=]; NP_000534.3:p.[(Trp32Ter)];[Trp32=]; rs3838786: six/six

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BMC Medical Genetics

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