Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An uncommon autopsy case involving Proteus syndrome with multiple hamartomatous lesions in a 52 year old woman is reported. At birth, hemihypertrophy was noted on the right side of the face. Leiomyoma of the urinary bladder was extirpated at 37 years of age. She died of sepsis due to a brain abscess. At autopsy, diffuse asymmetrical lipomatosis was noted on the right side of the face, scalp, lip, oral mucosa, tongue and on the left side of the cerebellar peduncle. Multiple meningiomas, cavernous hemangiomas and osseous hypertrophy overlapped in the intracranial regions. The present case is considered as a regional type of Proteus syndrome displaying a somatic mosaicism.
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PMID:Regional Proteus syndrome: report of an autopsy case. 755 Oct 15

A male baby was delivered by Caesarean section at term to a 35 years second gravida lady with fibroid uterus. The mother was booked and immunized and not on any medication. Antenatal and natal periods including serial ultrasounds were normal. At birth the neonate was observed to have multiple grooves over ring & middle index finger of left hand and hypoplasia of left little finger. Both great toes were amputated. In view of asymmetrical involvement, presence of amniotic bands, no other organ involvement and sporadic nature, he was diagnosed as a case of amniotic band sequence. Congenital amputations should be distinguished from congenital hypoplasia and/or aplasia. Differentiation is important for genetic counselling and evaluation of the risk of recurrence.
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PMID:Amniotic band sequence--a debilitating syndrome. 2359 Dec 49