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10 积分 2025-02-18 加入
A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation
2天前
已完结
Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X‐linked multiple congenital anomalies/mental retardation syndrome: Clinical description and molecular studies
2天前
已完结
Linkage studies with the gene for an X‐linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)
2天前
已完结
Renpenning syndrome related to a missense variant in polyglutamine-binding protein 1 (PQBP1): Two pediatric cases from a Chinese family and literature review
2天前
已完结
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