Developmental Genetics Disease Mutations
0.0(0)
Studied by 0 people
Call Kai
Learn
Practice Test
Spaced Repetition
Match
Flashcards
Knowt PlayCard Sorting
1/16
There's no tags or description
Looks like no tags are added yet.
Last updated 8:21 PM on 12/13/25
Name | Mastery | Learn | Test | Matching | Spaced | Call with Kai |
|---|
No analytics yet
Send a link to your students to track their progress
17 Terms
1
New cards
Holt-Oram Syndrome
TBX5
2
New cards
Cleidocranial Dysostosis
RUNX2
3
New cards
Thantophoric Dysplasia
FGFR3
4
New cards
Achonroplasia
FGFR3
5
New cards
Hypochondroplasia
FGFR3
6
New cards
Craniosynostoses
FGFR1, FGFR2, FGFR3, TWIST
7
New cards
Holoprosencephaly
SHH
8
New cards
Smith-Lemli-Opitz Syndrome
7DHC (cholesterol metabolosms abnormality)
9
New cards
Gorlin Syndrome
PTCH
10
New cards
Greig Cephalipolysyndactlyly
GLI3
11
New cards
Rubeinstein-Taybi Syndrome
CREBBP
12
New cards
Noonan Syndrome
PTPN11
13
New cards
LEOPARD Syndrome
PTPN11, RAF1, BRAF
14
New cards
Cardiofaciocutaneous Syndrome
BRAF
15
New cards
Costello syndrome
HRAS
16
New cards
Neurofibromatosis Type 1
NF1
17
New cards
Marfan Syndrome
FBN1
Note 
Flashcards (30)