scholarly journals Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Marcello Niceta ◽  
Maria Lisa Dentici ◽  
Andrea Ciolfi ◽  
Romana Marini ◽  
Sabina Barresi ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Literature Review ◽  
Growth Hormone Deficiency ◽  
Joubert Syndrome ◽  
Hormone Deficiency

scholarly journals Cleidocranial dysplasia with growth hormone deficiency: a case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Nozomi Takaki ◽  
Jun Mori ◽  
Satoshi Matsuo ◽  
Toshio Osamura ◽  
Toshimi Michigami
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Growth Hormone Deficiency ◽  
Hormone Deficiency ◽  
Cleidocranial Dysplasia

scholarly journals Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

2017 ◽  
Vol 136 (4) ◽  
pp. 399-408 ◽  
Author(s):  
Joshi Stephen ◽  
◽  
Thierry Vilboux ◽  
Luhe Mian ◽  
Chulaluck Kuptanon ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Joubert Syndrome ◽  
Hormone Deficiency
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