Similar Items: A Case of Nonimmune Hydrops Fetalis With a Duct-Dependent Systemic Circulation and a Novel Mutation of Kabuki Syndrome
- MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in SLC16A2
- A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome
- Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome
- Genetic Analysis of Pitt–Hopkins Syndrome Caused by a Novel Splicing Variant (c.1146+3A>T) in the TCF4 Gene
- First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum
- Craniometaphyseal dysplasia with severe maxillary hypoplasia due to gene mutation: A case report