Browsing by Subject "face dysmorphia"

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Absence of NOTCH2 and Hey2 mutations in a familial alagille syndrome case with a novel frameshift mutation in JAG1

El-Rassy I.; Bou-Abdallah J.; Al-Ghadban S.; Bitar F.; Nemer G. (HOBOKENDIV JOHN WILEY and SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 USA, 2008)

[No abstract available]
D-bifunctional protein deficiency, a novel mutation

Dib R.E.; Karam P.; Mikati M.A.; Steinberg S.; Habbal M.Z. (, 2008)

Deficiency of D-bifunctional protein causes a severe, Zellweger-like phenotype. Different mutations were found in humans causing the total or partial loss of this enzyme's function. We report a family with severe Zellweger-like ...
Dubowitz syndrome: Common findings and peculiar urine odor

Chehade C.; Awwad J.; Yazbeck N.; Majdalani M.; Wakim R.; Tfayli H.; Farra C. (, 2013)

Background: Dubowitz syndrome is a rare, autosomal recessive disorder characterized by intrauterine and postnatal growth retardation, severe microcephaly, psychomotor retardation, hyperactivity, eczema, and characteristic ...
Familial hemophagocytic lymphohistiocytosis in 2 siblings with dysmorphogenesis: A new syndrome or an association between 2 syndromes?!

Alsaied T.; Charafeddine L.; Rajab M.; Muwakkit S. (PHILADELPHIA530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA, 2011)

Hemophagocytic lymphohistiocytosis represents a rare but biologically and clinically important group of disorders. The cardinal manifestations are prolonged fever, cytopenias, hepatosplenomegaly, and hemophagocytosis by ...

Now showing items 1-4 of 4

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Browsing by Subject "face dysmorphia"

Browsing by Subject "face dysmorphia"

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Copyright Statement