Developmental Genetics Disease Mutations
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17 Terms
1
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Holt-Oram Syndrome
TBX5
2
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Cleidocranial Dysostosis
RUNX2
3
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Thantophoric Dysplasia
FGFR3
4
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Achonroplasia
FGFR3
5
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Hypochondroplasia
FGFR3
6
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Craniosynostoses
FGFR1, FGFR2, FGFR3, TWIST
7
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Holoprosencephaly
SHH
8
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Smith-Lemli-Opitz Syndrome
7DHC (cholesterol metabolosms abnormality)
9
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Gorlin Syndrome
PTCH
10
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Greig Cephalipolysyndactlyly
GLI3
11
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Rubeinstein-Taybi Syndrome
CREBBP
12
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Noonan Syndrome
PTPN11
13
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LEOPARD Syndrome
PTPN11, RAF1, BRAF
14
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Cardiofaciocutaneous Syndrome
BRAF
15
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Costello syndrome
HRAS
16
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Neurofibromatosis Type 1
NF1
17
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Marfan Syndrome
FBN1
Note 
Flashcards (34)