PCSK5 mutation in a patient with the VACTERL association
نویسندگان
چکیده
منابع مشابه
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5.
We have identified an ethylnitrosourea (ENU)-induced recessive mouse mutation (Vcc) with a pleiotropic phenotype that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, renal and palatal agenesis, and pulmonary hypoplasia. It results from a C470R mutation in the proprotein convertase PCSK5 (PC5/6). Compound muta...
متن کاملVACTERL Association
VACTERL association [3] is a term applied to a specific group of abnormalities involving structures derived from the mesoderm [4]. Although the defects of this disorder are clearly linked, VACTERL is called an association rather than a syndrome because the exact genetic cause is unknown. ?VACTERL? is an acronym, each letter standing for one of the defects associated with the condition: V for ve...
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Scrotal ectopia is a rare condition. Associated anomalies are common. We describe a neonate with ectopic scrotum with VACTERL association. This combination of anomalies is very rare.
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چکیده ندارد.
VACTERL association in the newborn
VACTERL association is a non-random association of birth (congenital) defects that affects multiple median and para-median structures. VACTERL association is a useful acronym to denote vertebral abnormalities (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal or radial abnormalities (R), and limb abnormalities (L). Atleast 3 or more defects must be present to mak...
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ژورنال
عنوان ژورنال: BMC Research Notes
سال: 2015
ISSN: 1756-0500
DOI: 10.1186/s13104-015-1166-0