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BMP4
- brachydactyly: short digits
- signaling molecule
-
SHH
- holoprosencephaly: hypoplasia or aplasia of forebrain and midline facial features
- signaling molecule
-
FGFR3
- achondroplasia: short stature, proximal shortening of limbs macrocephaly
- receptor molecule
-
PTC
- gorlin: overgrown organs, skeletal anomalies, basal cell carcinoma
- receptor molecule
-
RET
- hirschsprung: aganglionic megacolon
- receptor molecule
-
KIT
- piebaldism: hypopigmented patches of skin
- receptor molecule
-
PAX6
- aniridia: hypoplasia or aplasia of iris
- transcription factor
-
SOX9
- campomelic dwarfism: skeletal dysplasia, sex reversal
- transcription factor
-
SOX10
- Hirschsprung: aganglionic megacolon with features of Waardenburg
- transcription factor
-
GLI3
- polydactyly, post-axial: extra digits on ulnar side of hand and fibular side of foot
- transcription factor
-
HOXD13
- synpolydactyly: fusion of extra digits to other digits
- transcription factor
-
PAX3
- Waardenburg, Type I: hypopigmentation, hearing loss, dystopia canthorum
- transcription factor
-
MITF
- Waardenburg, Type II: hypopigmentation, hearing loss
- Transcription factor
-
7-dehydrocholesterol reductase
- smith-lemli-opitz: mental retardation, syndactyly, multiple organ abnormalities
- cholesterol metabolism
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