Hereditary Sensory and Autonomic Neuropathy Type I (HSAN I) | Syndromes: Rapid Recognition and Perioperative Implications, 2e |...
Autosomal dominant, chromosome 9q22.. +++. Pathophysiology. ++. Shorter lifespan of ganglion cells in sacral and lumbar dorsal ...
Chapter 160. Mucopolysaccharidosis, Glycoproteinosis, and Mucolipidosis | Rudolph's Pediatrics, 22e | AccessPediatrics | McGraw...
Genetics (OMIM Number, Chromosome, Common Mutations). Treatment. Prognosis. MPS I. MPS IH (Hurler). α-L-Iduronidase. C, CF, CC ...
Congenital Dyserythropoietic Anemias | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessPediatrics |...
CDA II: Autosomal recessive, but the mutations have been mapped to chromosome 20p11.23. Consanguinity is present in a few ... and the genetic defect has been mapped to chromosome 15q21. ...
Dyggve-Melchior-Clausen Syndrome | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessPediatrics | McGraw...
Linkage studies localized the responsible genes to chromosome 18q12-21.1. This gene seems to be involved in normal skeletal ...
Glutaric Acidemia Type I (GA-I) | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessPediatrics | McGraw...
Defective gene coding for glutaryl-CoA dehydrogenase is located on chromosome 19. Forty-five mutations have been identified. ...
Complex II Deficiency | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessPediatrics | McGraw Hill Medical
It can be caused by mutation in the nuclear-encoded SDHA gene on chromosome 5p. ...
Ritscher-Schinzel Syndrome | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessPediatrics | McGraw Hill...
Caused by homozygous mutation in the KIAA0196 gene on chromosome 8q24 and/or an environmental teratogen. ...
Ankyloblepharon Filiforme Adnatum and Cleft Palate | Syndromes: Rapid Recognition and Perioperative Implications, 2e |...
This autosomal dominant inherited disorder is caused by a mutation in the tumor protein p63 gene located on chromosome 3q27. It ...
Andermann Syndrome | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessPediatrics | McGraw Hill Medical
... which has been mapped to chromosome 15q14. This potassium-chloride (K-Cl) cotransporter (KCC3) protein could be involved in ...
Chapter 271. Leprosy | Rudolph's Pediatrics, 22e | AccessPediatrics | McGraw Hill Medical
Genome-wide screening in various populations has found associations with leprosy susceptibility on chromosome 10p13, near the ... gene for mannose receptor C, a phagocytic receptor on macrophages, on chromosome 6, within the major histocompatibility complex ...