Additional file 1 of Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene
收藏Mendeley Data2024-06-27 更新2024-06-27 收录
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https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Case_report_a_Chinese_girl_like_atypical_Rubinstein_Taybi_syndrome_caused_by_a_novel_heterozygous_mutation_of_the_EP300_gene/22609957/1
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Additional file 1: Fig. S1a–g. Phenotypic features of patient described in this study. a and b The patient 4 years old. Note slightly arched eyebrows and synophridia, a square tip to his nose, normal columella, prominent two front teeth, normal tooth number and absence of characteristic grimace of Rubinstein–Taybi syndrome. c The fine hairs on the front of the ear and on the cheek are hair whorl. d and e The child has heavy fine hair on her back and opisthenar. f Patient has no broad or angulated thumbs, nor broad distal phalanges of the fingers, as seen in patients with Rubinstein–Taybi syndrome. g Girl has a sixth toe of her left foot, that hexadactyly. Short Video S1. She can ride a tricycle independently and freely. Short Video S2 and S3. She can build blocks and draw with no problem.
创建时间:
2023-06-28



