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This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and pro...
Mutations of the gene encoding the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1 gene) cause defects in the cholesterol pathway to bile acids that lead to the storage of cholestanol and cholesterol in tendo...
A female patient, with normal familial history, developed at the age of 30 months an episode of diarrhoea, vomiting and lethargy which resolved spontaneously. At the age of 3 years, the patient re-iterated vom...
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, a...
Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that cause malnutrition, failure to thrive, growth failure ...
To determine the frequency and clinical features of bleeding disorders in the tribe as a result of consanguineous marriages.
Interstitial lung disease (ILD) in infants and children comprises a large spectrum of rare respiratory disorders that are mostly chronic and associated with high morbidity and mortality. These disorders are ch...
Hereditary combined vitamin K-dependent clotting factors deficiency (VKCFD) is a rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X as well as n...
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-...
Orphanet Journal of Rare Diseases