scholarly journals Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

2017 ◽  
Vol 20 (1) ◽  
pp. 91-97 ◽  
Author(s):  
Alfonso Hisado-Oliva ◽  
Alba Ruzafa-Martin ◽  
Lucia Sentchordi ◽  
Mariana F A Funari ◽  
Carolina Bezanilla-López ◽  
...  
Keyword(s):  
Short Stature ◽  
Natriuretic Peptide ◽  
Autosomal Dominant

Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: A new autosomal dominant syndrome

1984 ◽  
Vol 18 (1) ◽  
pp. 67-77 ◽  
Author(s):  
Judith K. Stern ◽  
Mark S. Lubinsky ◽  
Daniel S. Durrie ◽  
John R. Luckasen ◽  
John M. Opitz
Keyword(s):  
Short Stature ◽  
Premature Birth ◽  
Autosomal Dominant

scholarly journals Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Are Associated with Short Stature

2006 ◽  
Vol 91 (4) ◽  
pp. 1229-1232 ◽  
Author(s):  
Robert C. Olney ◽  
Hülya Bükülmez ◽  
Cynthia F. Bartels ◽  
Timothy C. R. Prickett ◽  
Eric A. Espiner ◽  
...  
Keyword(s):  
Short Stature ◽  
Natriuretic Peptide ◽  
Natriuretic Peptide Receptor ◽  
Peptide Receptor

scholarly journals Noonan syndrome: a clinical and genetic study of 31 patients

1999 ◽  
Vol 54 (5) ◽  
pp. 147-150 ◽  
Author(s):  
Débora Romeo Bertola ◽  
Sofia M. M. Sugayama ◽  
Lilian Maria José Albano ◽  
Ae Kim Chong ◽  
Claudette Hajaj Gonzalez
Keyword(s):  
Congenital Anomaly ◽  
Short Stature ◽  
Family Member ◽  
Genetic Study ◽  
Noonan Syndrome ◽  
Autosomal Dominant ◽  
Clinical Findings ◽  
Multiple Congenital Anomaly ◽  
Genetic Characteristics ◽  
Cardiac Anomalies

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%); cardiac anomalies (65%), and fetal pads in fingers and toes (70%). After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

Dynamic response of C-type natriuretic peptide and its aminoterminal propeptide (NTproCNP) to growth hormone treatment in children with short stature

2016 ◽  
Vol 85 (4) ◽  
pp. 561-568 ◽  
Author(s):  
Robert C. Olney ◽  
Parisa Salehi ◽  
Timothy C.R. Prickett ◽  
John J. Lima ◽  
Eric A. Espiner ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Dynamic Response ◽  
Short Stature ◽  
Natriuretic Peptide ◽  
Growth Hormone Treatment ◽  
Hormone Treatment

scholarly journals Familial Type C Syndrome of Insulin Resistance and Short Stature with Possible Autosomal Dominant Transmission.

1989 ◽  
Vol 36 (3) ◽  
pp. 349-358 ◽  
Author(s):  
FUMIKO NAKAMURA ◽  
MASATO TAIRA ◽  
NAOTAKE HASHIMOTO ◽  
HIDEICHI MAKINO ◽  
NOZOMU SASAKI
Keyword(s):  
Insulin Resistance ◽  
Short Stature ◽  
Autosomal Dominant ◽  
Autosomal Dominant Transmission ◽  
Familial Type ◽  
Type C

A novel familial autosomal dominant mutation inARID1Bcausing neurodevelopmental delays, short stature, and dysmorphic features

2016 ◽  
Vol 170 (12) ◽  
pp. 3313-3318 ◽  
Author(s):  
Joshua A. Smith ◽  
Kenton R. Holden ◽  
Michael J. Friez ◽  
Julie R. Jones ◽  
Michael J. Lyons
Keyword(s):  
Short Stature ◽  
Autosomal Dominant ◽  
Dominant Mutation ◽  
Dysmorphic Features

Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes

1983 ◽  
Vol 15 (1) ◽  
pp. 29-38 ◽  
Author(s):  
Dagfinn Aarskog ◽  
Leiv Ose ◽  
Helene Pande ◽  
Nils Eide ◽  
John M. Opitz
Keyword(s):  
Short Stature ◽  
Autosomal Dominant ◽  
Partial Lipodystrophy
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