TBCE - Wikipedia
Two transcript variants encoding the same protein have been found for this gene. [5 ]
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Kenny–Caffey syndrome - Wikipedia
Kenny–Caffey syndrome type 2 (KCS2) is an extremely rare autosomal dominant genetic condition characterized by dwarfism, farsightedness, microphthalmia, and skeletal abnormalities. [1 ] This subtype of Kenny–Caffey syndrome is caused by a…
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FAM111A Mutations Result in Hypoparathyroidism and Impaired…
Kenny-Caffey syndrome (KCS) and the similar but more severe osteocraniostenosis (OCS) are genetic conditions characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with…
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The Molecular Basis of Hereditary Enamel Defects in Humans…
The formation of human enamel is highly regulated at the molecular level and involves thousands of genes. Requisites for development of this highly mineralized tissue include cell differentiation; production of a unique extracellular matrix…
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Sanjad–Sakati syndrome - Wikipedia
Sanjad–Sakati syndrome (Middle East syndrome) is a rare autosomal recessive genetic condition seen in offspring of Middle Eastern origin. [1 ] It was first described in Saudi Arabia, [2 ] but has been seen in Qatari, Kuwaiti, Omani and…
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Review of Pediatrics and Neonatology | PDF | Multiple Choice…
Review of Pediatrics and Neonatology (1) - Free download as PDF File (.pdf), Text File (.txt) or read online for free.
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Epidemiology and Diagnosis of Hypoparathyroidism - PMC
Hypoparathyroidism is a disorder characterized by hypocalcemia due to insufficient secretion of PTH. Pseudohypoparathyroidism is a less common disorder due to target organ resistance to PTH.
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Genetic testing for familial hypoparathyroidism (R153) - Oxford…
Oxford Genetics Laboratories at Oxford University Hospitals. Genetics Laboratories. Rare disease genomics. Endocrine disorders. Genetic testing for familial hypoparathyroidism (R153).
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Raffaele Falsaperla | Managing Director | Doctor of Medicine…
Raffaele Falsaperla, Managing Director | Cited by 5,152 | | Read 384 publications | Contact Raffaele Falsaperla
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Hypoparathyroidism in the Adult: Epidemiology, Diagnosis…
Other classifications relate to hypoparathyroidism associated with complex syndromes involving resistance to PTH or other endocrine gland abnormalities (Table 1).
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