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Fig. 3 | BMC Endocrine Disorders

Fig. 3

From: A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report

Fig. 3

Pathogenic variants of the PDE4D gene previously reported in the reviewed literature (a). All DNA variants are depicted according to their position in the PDE4D gene transcript (NM_001104631.2) and in the PDE4D protein (NP_001098101.1) domains. The novel missense variant of the PDE4D gene detected in the present study is also shown. Nucleotide sequence conservation analysis (b) showed that altered G nucleotide position is conserved in several animal species (ClustalOmega tool at EMBLEBI website was used)

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BMC Endocrine Disorders

ISSN: 1472-6823

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