PMID- 9066892
OWN - NLM
STAT- MEDLINE
DCOM- 19970624
LR  - 20071114
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 69
IP  - 1
DP  - 1997 Mar 3
TI  - Deletion of the entire NF1 gene causing distinct manifestations in a family.
PG  - 98-101
AB  - We identified a father and son with neurofibromatosis type 1 (NF1) due to a 
      deletion of the entire NF1 gene detected by fluorescence in situ hybridization 
      (FISH). As is the case for others reported to have such large deletions, father 
      and son had severe NF1, including a large number of cutaneous neurofibromas, 
      facial anomalies, large hands, feet, and head, and developmental impairment. They 
      were discordant in that seizures and plexiform neurofibromas occurred only in the 
      propositus. Large NF1 deletions can be compatible with familial transmission and 
      appear to be associated with a distinct phenotype.
FAU - Wu, B L
AU  - Wu BL
AD  - Division of Genetics, Children's Hospital, Boston, Massachusetts, USA.
FAU - Schneider, G H
AU  - Schneider GH
FAU - Korf, B R
AU  - Korf BR
LA  - eng
GR  - 5P30HD18655-13/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Neurofibromin 1)
RN  - 0 (Proteins)
SB  - IM
MH  - Adolescent
MH  - Family
MH  - *Gene Deletion
MH  - *Genes, Neurofibromatosis 1
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - Neurofibromatosis 1/*genetics
MH  - Neurofibromin 1
MH  - Proteins/*genetics
EDAT- 1997/03/03 00:00
MHDA- 2000/06/20 09:00
CRDT- 1997/03/03 00:00
PHST- 1997/03/03 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1997/03/03 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19970303)69:1<98::AID-AJMG19>3.0.CO;2-J [pii]
PST - ppublish
SO  - Am J Med Genet. 1997 Mar 3;69(1):98-101.