Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome

2002 ◽  
Vol 16 (4) ◽  
pp. 315-318 ◽  
Author(s):  
C. Patrono ◽  
C. Dionisi-Vici ◽  
A. Giannotti ◽  
B. Bembi ◽  
M.C. Digilio ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Opitz Syndrome

scholarly journals Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations

1999 ◽  
Vol 7 (8) ◽  
pp. 937-940 ◽  
Author(s):  
D De Brasi ◽  
T Esposito ◽  
M Rossi ◽  
G Parenti ◽  
MP Sperandeo ◽  
...  
Keyword(s):  
Common Mutation ◽  
Novel Mutations ◽  
Opitz Syndrome

scholarly journals Identification of 14 novel mutations inDHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of theDHCR7 mutational spectra in Spain and Italy

2005 ◽  
Vol 25 (4) ◽  
pp. 412-412 ◽  
Author(s):  
M. Witsch-Baumgartner ◽  
P. Clayton ◽  
N. Clusellas ◽  
D. Haas ◽  
R.I. Kelley ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Mutational Spectra ◽  
Opitz Syndrome

X-linked Opitz syndrome: Novel mutations in theMID1gene and redefinition of the clinical spectrum

2003 ◽  
Vol 120A (2) ◽  
pp. 222-228 ◽  
Author(s):  
Francesca De Falco ◽  
Silvia Cainarca ◽  
Grazia Andolfi ◽  
Rosa Ferrentino ◽  
Caterina Berti ◽  
...  
Keyword(s):  
Clinical Spectrum ◽  
Novel Mutations ◽  
Opitz Syndrome

scholarly journals Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome

2001 ◽  
Vol 65 (3) ◽  
pp. 229-236 ◽  
Author(s):  
P. E. JIRA ◽  
R. J. A. WANDERS ◽  
J. A. M. SMEITINK ◽  
J. JONG ◽  
R. A. WEVERS ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Reductase Gene ◽  
Opitz Syndrome

Two novel mutations of RUNX2 gene in two sporadic cleidocranial dysplasia patients

2016 ◽  
Author(s):  
Cong Zhang ◽  
Yan Jiang ◽  
Xiaoping Xing ◽  
Mei Li ◽  
Ou Wang ◽  
...  
Keyword(s):  
Cleidocranial Dysplasia ◽  
Novel Mutations

Novel Mutations in the EPO-R, VHL Genes and a Reported Mutation in EPAS1 Gene in the Congenital Erythrocytosis Patients in a Southern State of India

2019 ◽  
Author(s):  
Chodimella Chandrasekhar ◽  
Pasupuleti Santhosh Kumar ◽  
Potukuchi Venkata Gurunadha Krishna Sarma
Keyword(s):  
Novel Mutations ◽  
Southern State ◽  
I Gene

scholarly journals Correction to: Neonatal Diabetes Mellitus: Novel Mutations

2021 ◽  
Author(s):  
Sapna Nayak ◽  
Aditya Narayan Sarangi ◽  
Saroj Kumar Sahoo ◽  
Pragya Mangla ◽  
Manoranjan Tripathy ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Novel Mutations
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