Disease: Pterygium syndrome X-linked
- A comprehensive review of the genetic basis of cleft lip and palate
- A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance
- A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders
- An update on the aetiology of orofacial clefts
- Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review
- Escobar syndrome mimicing congenital patellar syndrome
- Isolated and combined genetic tremor syndromes: a critical appraisal based on the 2018 MDS criteria
- Lethal multiple pterygium syndrome
- Lethal multiple pterygium syndrome in four male fetuses in a family: evidence for an X-linked recessive subtype?
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- Proximal Dominant Hereditary Motor and Sensory Neuropathy with <em>TFG</em> Mutation: First Case Report from India
- Single-channel properties of skeletal muscle ryanodine receptor pore Δ<sup>4923</sup>FF<sup>4924</sup> in two brothers with a lethal form of fetal akinesia
- Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome
- The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility
- The lethal multiple pterygium syndrome: a nosological approach
- The prenatal sonographic diagnosis of lethal multiple pterygium syndrome: a heritable cause of recurrent abortion
- Zebrafish Models of Autosomal Dominant Ataxias