Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

Homocystinuria

An increased concentration of homocystine in the urine.


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(per page)
PMID (PMCID)
28666510
 OTHER Child
Homocystinuria (HC) and Neurofibromatosis Type-1 (NF-1): An Unusual Presentation in a Child.
Yaqub MA, Khan MS, Habib A.
J Coll Physicians Surg Pak. 2016;26(11):140-141.
Homocystinuria (HC) and neurofibromatosis type-1 (NF-1) are two genetically determined conditions with variable clinical manifestations.