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we report a Chinese Milroy Disease family with affected members of two generations
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创建时间：
2021-06-23
相关数据集
Genotypes of SD patients analyzed in this study.
ND: not detectable; NA: not available. Novel mutations are indicated in bold, *RefSeq cDNA:NM_000521. For cDNA numbering +1 corresponds to the A of the first ATG translation initiation codon. RefSeq p
NIAID Data Ecosystem70
Homo sapiens Exome. Homo sapiens
Exome sequencing for a Chinese girl with KBG syndrome
NIAID Data Ecosystem50
Additional file 1: of Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review
The putative genetic mutations in WES analysis. According to an assumed inheritance of autosomal recessive mode for this disease, we first analyzed the putative genetic mutations homozygous in the pat
Figshare2018-08-11 更新10
Supplementary Material for: A new family with X-linked intellectual disability-90: A case report of a novel DLG3 variant and literature review
Abstract Introduction: X-linked intellectual disability (XLID) is a highly heterogeneous disease. Apart from Fragile X, other diseases that cause XLID are quite rare. The DLG3 gene variants cause XLID
DataCite Commons2025-05-15 更新50
Table_1_Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder.pdf
Objective: Developmental language delay (DLD) is one of the most common disabilities in childhood and can negatively affect a child's communication skills and academic and/or psychosocial development.
NIAID Data Ecosystem40
