Disease: Mental retardation short stature scoliosis
- <em>CTCF</em>-Related Disorder
- <em>CTDP1</em>-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy
- <em>MBTPS1</em>-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes
- 3M syndrome patient with a novel mutation: A case report
- A 10-Year-Old Boy with Short Stature and Microcephaly, Diagnosed with Moyamoya Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II)
- A rare occurrence of non-classic congenital adrenal hyperplasia and type 1 diabetes mellitus in a girl with Prader-Willi Syndrome: Case report and review of the literature
- Case Report: Identification of a novel PRR12 variant in a Chinese boy with developmental delay and short stature
- Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China
- Congenital NAD Deficiency Disorder
- Craniofacial and dentoalveolar morphology in individuals with Prader-Willi syndrome: a case-control study
- Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
- Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
- Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency
- Mucopolysaccharidosis Type VII
- Okur-Chung Neurodevelopmental Syndrome
- Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings
- Proteins and proteases of Prader-Willi syndrome: a comprehensive review and perspectives
- Schaaf-Yang Syndrome
- Tethered cord syndrome in KBG syndrome
- The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
- The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma
- The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss
- TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient
- Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, <em>ST3GAL5</em> Gene in a Saudi Family Causing Salt and Pepper Syndrome