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LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
TLDR
It is reported that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth and is important for the establishment of peak bone mass. Expand
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
TLDR
Target massively parallel resequencing of 19 known and 46 candidate genes for epileptic encephalopathy in 500 affected individuals (cases) to identify new genes involved and to investigate the phenotypic spectrum associated with mutations in known genes. Expand
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
TLDR
Seven protocadherin 19 (PCDH19) gene mutations in seven families with EFMR resulted in the introduction of a premature termination codon and two missense mutations were predicted to affect adhesiveness of PCDH19 through impaired calcium binding. Expand
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
BACKGROUND Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder associated with an increased predisposition to osteosarcoma. Children with RTS typically present with a characteristicExpand
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
TLDR
The combined frequency of SCN1A andSCN1B mutations in familial cases of GEFS+ was found to be 17%. Expand
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.
TLDR
A case-series study reveals a clinical profile of RTS that includes a higher prevalence of OS and fewer cataracts, compared with historical reports, which may reflect either allelic or genetic heterogeneity. Expand
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
TLDR
A range of EFTUD2-mutation types is seen in MFDM, consistent with haploinsufficiency; segregation is de novo in all cases assessed to date. Expand
Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy
TLDR
It is shown that recessive mutations in the ASNS gene are responsible for this syndrome and that asparagine synthesis is essential for the development and function of the brain but not for that of other organs. Expand
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
TLDR
It is reported that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein. Expand
Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion
TLDR
A sequence‐based physical map was constructed and highly homologous sequences, i.e., possible low copy repeats (LCRs), in regions flanking proximal and distal breakpoints of the common deletion, suggests that LCRs may mediate the deletion. Expand
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