Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are
commonly associated with orthopedic, ocular, and hearing problems. However, the …

Pierre Robin sequence (PRS) is an important subgroup of cleft palate. We report several
lines of evidence for the existence of a 17q24 locus underlying PRS, including linkage …

Joubert syndrome–related disorders (JSRDs) are a group of clinically and genetically
heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth …

Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features,
osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we …

We describe a recessively inherited frontonasal malformation characterized by a distinctive
facial appearance, with hypertelorism, wide nasal bridge, short nasal ridge, bifid nasal tip …

Objective: To evaluate the phenotypic spectrum associated with mutations in TBC1D24.
Methods: We acquired new clinical, EEG, and neuroimaging data of 11 previously …

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a complex disorder of multigenic
origin involving between two and ten loci. Linkage and association studies of CL/P have …

Many clinical features of autosomal centronuclear myopathies (CNM) and X-linked
myotubular myopathy (XLMTM) are common to congenital myasthenic syndromes (CMS) …

The Mediator is an evolutionarily conserved, multi-subunit complex that regulates multiple
steps of transcription. Mediator activity is regulated by the reversible association of a four …

Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation,
a recurrence risk of 1–2% is frequently quoted due to the possibility of parental germline …