000 01625 a2200457 4500
005 20250515020802.0
264 0 _c20060525
008 200605s 0 0 eng d
022 _a0009-9163
024 7 _a10.1111/j.1399-0004.2006.00576.x
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aStevenson, D A
245 0 0 _aClinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.
_h[electronic resource]
260 _bClinical genetics
_cMar 2006
300 _a246-53 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAlleles
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aFemale
650 0 4 _aGenes, Neurofibromatosis 1
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aIntracellular Signaling Peptides and Proteins
_xgenetics
650 0 4 _aMale
650 0 4 _aMutation
650 0 4 _aNeurofibromatosis 1
_xcomplications
650 0 4 _aNoonan Syndrome
_xcomplications
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aProtein Tyrosine Phosphatase, Non-Receptor Type 1
650 0 4 _aProtein Tyrosine Phosphatase, Non-Receptor Type 11
650 0 4 _aProtein Tyrosine Phosphatases
_xgenetics
650 0 4 _aSequence Deletion
700 1 _aViskochil, D H
700 1 _aRope, A F
700 1 _aCarey, J C
773 0 _tClinical genetics
_gvol. 69
_gno. 3
_gp. 246-53
856 4 0 _uhttps://doi.org/10.1111/j.1399-0004.2006.00576.x
_zAvailable from publisher's website
999 _c16150987
_d16150987