000 01648 a2200541 4500
005 20250513224346.0
264 0 _c20001207
008 200012s 0 0 eng d
022 _a1018-4813
024 7 _a10.1038/sj.ejhg.5200533
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aCusano, R
245 0 0 _aLocalisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.
_h[electronic resource]
260 _bEuropean journal of human genetics : EJHG
_cNov 2000
300 _a895-9 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAbnormalities, Multiple
_xgenetics
650 0 4 _aAdult
650 0 4 _aChild
650 0 4 _aChromosome Mapping
650 0 4 _aChromosomes, Human, Pair 22
_xgenetics
650 0 4 _aDNA
_xgenetics
650 0 4 _aEye Abnormalities
650 0 4 _aFamily Health
650 0 4 _aFemale
650 0 4 _aGenotype
650 0 4 _aHaplotypes
650 0 4 _aHearing Loss, Sensorineural
650 0 4 _aHumans
650 0 4 _aItaly
650 0 4 _aMale
650 0 4 _aMicrosatellite Repeats
650 0 4 _aMiddle Aged
650 0 4 _aNephritis
650 0 4 _aPedigree
650 0 4 _aSyndrome
650 0 4 _aThrombocytopenia
700 1 _aGangarossa, S
700 1 _aForabosco, P
700 1 _aCaridi, G
700 1 _aGhiggeri, G M
700 1 _aRusso, G
700 1 _aIolascon, A
700 1 _aRavazzolo, R
700 1 _aSeri, M
773 0 _tEuropean journal of human genetics : EJHG
_gvol. 8
_gno. 11
_gp. 895-9
856 4 0 _uhttps://doi.org/10.1038/sj.ejhg.5200533
_zAvailable from publisher's website
999 _c11034862
_d11034862