Gracile bone dysplasia
Also Known As:
Habrodysplasia; Osteocraniosplenic syndrome; Osteocraniostenosis; Skeletal dysplasia, lethal, with gracile bones
Networked: 4
relevant articles (0 outcomes,
0 trials/studies)
Disease Context: Research Results
Related Diseases
Experts
1. | Dimke, Henrik:
1 article
(11/2021)
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2. | Lee, Christy Hui Lin:
1 article
(11/2021)
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3. | Tan, Rebecca Siu Ga:
1 article
(11/2021)
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4. | Todd Alexander, R:
1 article
(11/2021)
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5. | Boddy, Michael N:
1 article
(01/2021)
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6. | Jami-Alahmadi, Yasaman:
1 article
(01/2021)
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7. | Lazzerini-Denchi, Eros:
1 article
(01/2021)
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8. | Nie, Minghua:
1 article
(01/2021)
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9. | Oravcová, Martina:
1 article
(01/2021)
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10. | Wohlschlegel, James A:
1 article
(01/2021)
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Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to Gracile bone dysplasia:
1. | Serine Proteases (Serine Protease)IBA
10/05/2020
- " Dominant missense mutations in the human serine protease FAM111A underlie perinatally lethal gracile bone dysplasia and Kenny-Caffey syndrome, yet how FAM111A mutations lead to disease is not known. " 11/01/2021
- " Additionally, the putative serine protease, FAM111A, is discussed as a potential regulator of the CaSR because mutations in FAM111A cause Kenny Caffey syndrome type 2, gracile bone dysplasia, and osteocraniostenosis, diseases that are characterized by hypocalcemia, hypoparathyroidism, and bony abnormalities, i.e. "
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2. | Proteins (Proteins, Gene)FDA Link
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3. | trypsin-like serine proteaseIBA
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