Lipoid proteinosis, a rare autosomal recessive disorder, presents in early childhood with hoarseness, skin infiltration and thickening, beaded papules on eyelid margins, and facial acneiform or pock- like scars. Although

OBJECTIVE To assess the frequency, nature, and severity of cardiac abnormalities in limb girdle muscular dystrophy, and its relation to age and weakness in various genotypes. DESIGN In 26 autosomal dominant, 38 autosomal recessive, and 33 sporadic strictly defined patients with limb girdle muscular dystrophy, cardiac evaluation included history, physical examination, chest x ray, electrocardi...

As a consequence of the high consanguinity rate among the Palestinian Arabs, many recessive disorders are present with a relatively high frequency. In a survey of 2000 different Palestinian Arab families who visited our genetic clinic, in 601 an autosomal recessive disease was diagnosed or strongly suspected. The distribution of these disorders was not uniform and some disorders, such as Krabbe...

Background  H syndrome is an autosomal recessive genodermatosis with a low prevalence which is caused by a mutation in SLC29A3 gene. This disorder is characterized by sclerotic, hyperpigmented, hypertrichotic cutaneous plaques with systemic involvement including: hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycemia. Case Presentation  Here we have pres...

Nephrogenic diabetes insipidus (NDI) is a disease characterized by the inability of the kidney to concentrate urine upon stimulation with vasopressin. Mutations in the gene for aquaporin-2 (AQP2) are the cause of the autosomal recessive and autosomal dominant forms of NDI. Mutant AQP2 proteins, found in autosomal recessive NDI, were shown to be misfolded and retarded in the endoplasmic reticulu...

EBS is a rare genodermatosis usually inherited in an autosomal dominant fashion, although recessive cases have been reported. In severe generalised EBS, infants exhibit symptoms at the onset which tend to improve with time. We report adolescent epidermolysis bullosa simplex (EBS), most form of iron deficiency anaemia

Enns et al. claimed in previous work that NGLY1 deficiency is a novel autosomal recessive disorder of the ERAD pathway. We present here formalization claim, stating all things class “NGLY1 deficiency” are context thing “human” always have relation type “is caused by” to “dysfunction pathway” same context.

limb girdle muscular dystrophies (lgmds) are group of neuromuscular disorders which are characterized by progressive muscle weakness and they mostly affect the pelvic and shoulder girdle muscles. this disease can be inherited as autosomal dominant (lgmd1) and autosomal recessive (lgmd2). so far seven autosomal dominant and 20 autosomal recessive forms of this disease have been recognized reflec...

Thalassemia is a preventable hereditary disorder,each of the parent must be autosomal recessive tohave child with serious symptoms majordisease. occurs due to abnormal ordeficient Hemoglobin (an iron containing proteins)in Red Blood cells. Depending upon type ofproteins involved, there are two types ofThalassemia, aThalassemia and (3 12