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CARD15 mutations in Blau syndrome
We have identified three missense mutations in the nucleotide-binding domain (NBD) of CARD15/NOD2 in four French and German families with Blau syndrome. Our findings indicate that, in addition toExpand
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MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
Background Over the last few years, array-comparative genomic hybridisation (CGH) has considerably improved our ability to detect cryptic unbalanced rearrangements in patients with syndromic mentalExpand
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Phenotypic spectrum of STRA6 mutations: from Matthew‐Wood syndrome to non‐lethal anophthalmia
Matthew‐Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer to combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmaticExpand
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EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia
Background: Oesophageal atresia (OA) and mandibulofacial dysostosis (MFD) are two congenital malformations for which the molecular bases of syndromic forms are being identified at a rapid rate. InExpand
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Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
Microdeletions of the 22q11 region, responsible for the velo-cardio-facial syndrome (VCFS), are associated with an increased risk for psychosis and mental retardation. Recently, it has been shown inExpand
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15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion between BP1 and BP2 has been previously associated withExpand
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Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause
Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. Recently, exome sequencing studies identified theExpand
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Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH
Microdeletion 15q24 is an emerging syndrome recently described, mainly due to increased use of array‐CGH. Clinical features associate mild to moderate developmental delay, typical facialExpand
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Myhre and LAPS syndromes: clinical and molecular review of 32 patients
Myhre syndrome is characterized by short stature, brachydactyly, facial features, pseudomuscular hypertrophy, joint limitation and hearing loss. We identified SMAD4 mutations as the cause of MyhreExpand
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Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1
Purpose:Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The molecular basis of BCDExpand
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