Genetic Disorders and Biochemical Pathology — Flashcards

Rhizomelic chondrodysplasia punctata, is a disorder of peroxisomes characterized by defects in the peroxin (PEX) family of genes - _____

Congenital X-linked nephrogenic diabetes insipidus (NDI) results from inactivating mutations of which gene?_____

LHON is related to a mitochondrial DNA mutation, most frequently at the _____ position

Which adrenal enzymes are deficient in Antley-Bixler syndrome?_____

Hemophilia A and B mostly affect males, but rarely can affect females due to _____

Several genes have been implicated in congenital glaucoma, prominently _____.

What kind of odour is seen in Trimethylaminuria?_____

What is the mode of inheritance of Segawa syndrome?

Under Wood's lamp examination, urine, feces and blister fluid of porphyria show a _____ fluorescence

CADASIL is caused by mutations in the _____ gene, which lead to the misfolding of the extracellular domain of the receptor, preferentially expressed in vascular smooth muscle