PMID- 12784295
OWN - NLM
STAT- MEDLINE
DCOM- 20040203
LR  - 20220316
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 119A
IP  - 3
DP  - 2003 Jun 15
TI  - Deletion of the SHOX gene in patients with short stature of unknown cause.
PG  - 293-6
AB  - A fluorescence in situ hybridization (FISH) study was performed in 56 patients 
      with short stature of unknown cause in order to establish the role of deletion of 
      the SHOX gene in this population. FISH analysis was carried out on metaphase 
      spreads and interphase lymphocytes from blood smears using a probe specific for 
      the SHOX gene. Deletion of SHOX was found in four patients (7.1%). No skeletal 
      abnormalities were detected in these patients either at the physical examination 
      or at X-rays of the upper and lower limbs. Present results indicate that SHOX 
      plays an important role also in short stature of unknown cause, and FISH analysis 
      appears as an easy, appropriate, and inexpensive method for the detection of SHOX 
      deletion.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Morizio, E
AU  - Morizio E
AD  - Dipartimento di Scienze Biomediche, Universita "G D'Annunzio", Chieti, Italy.
FAU - Stuppia, L
AU  - Stuppia L
FAU - Gatta, V
AU  - Gatta V
FAU - Fantasia, D
AU  - Fantasia D
FAU - Guanciali Franchi, P
AU  - Guanciali Franchi P
FAU - Rinaldi, M M
AU  - Rinaldi MM
FAU - Scarano, G
AU  - Scarano G
FAU - Concolino, D
AU  - Concolino D
FAU - Giannotti, A
AU  - Giannotti A
FAU - Verrotti, A
AU  - Verrotti A
FAU - Chiarelli, F
AU  - Chiarelli F
FAU - Calabrese, G
AU  - Calabrese G
FAU - Palka, G
AU  - Palka G
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (Homeodomain Proteins)
RN  - 0 (SHOX protein, human)
RN  - 0 (Short Stature Homeobox Protein)
SB  - IM
MH  - Adolescent
MH  - Body Height/*genetics
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Forearm/diagnostic imaging
MH  - *Gene Deletion
MH  - Genetic Testing
MH  - Growth Disorders/genetics
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Italy
MH  - Male
MH  - Phenotype
MH  - Radiography
MH  - Short Stature Homeobox Protein
EDAT- 2003/06/05 05:00
MHDA- 2004/02/05 05:00
CRDT- 2003/06/05 05:00
PHST- 2003/06/05 05:00 [pubmed]
PHST- 2004/02/05 05:00 [medline]
PHST- 2003/06/05 05:00 [entrez]
AID - 10.1002/ajmg.a.20198 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Jun 15;119A(3):293-6. doi: 10.1002/ajmg.a.20198.