Mowat–Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or
deletions of the ZEB2 gene and is characterized by distinctive facial features, epilepsy, …

… Both children were found to be homozygous for the recurrent missense mutation, c.1580G>A…
Both affected subjects were homozygous for the c.1580 G → A transition in exon 9 resulting …

Studies suggest that genetic factors are associated with the etiology of learning disabilities.
Incontinentia Pigmenti (IP, OMIM#308300), which is caused by mutations of the IKBKG/…

Biallelic variants in FAT4 are associated with the two disorders, Van Maldergem syndrome (VMS)
(n = 11) and Hennekam syndrome (HS) (n= 40). Both conditions are characterized by …

… region the PTCH1 gene as well as the FANC-C one. So it is reasonable to conclude that this
… in the etiology of the tumor is the detection of the mutation c.43C>T (p.Arg135X) in the left …

… This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.…
In fact we have identified two so far undescribed SUMF1 mutations (c.191C > A; p.S64X and …

22q11.2 deletion syndrome is mainly characterized by conotruncal congenital heart defects,
velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial appearance. …

… The sequence tracings of WNT7A exon 2 show the homozygous c.214G > A (E72K) mutation
in the propositus (upper tracing; control tracing below). Conservation of the residue among …

Polyposis of the gallbladder is rare during childhood. This condition can be associated with
three other conditions: metachromatic leukodystrophy, Peutz-Jeghers’ syndrome, and …

Background Intrasaccular flow disruption with WEB is a safe and efficacious technique that
has significantly changed endovascular management of wide-neck bifurcation aneurysms (…