Keyphrases
Laurin-Sandrow Syndrome
100%
Microcephaly
70%
Founder mutation
62%
Pakistani
60%
Limb Malformation
57%
CDH3
50%
HOXD13
50%
CDH3 Gene
50%
Novel mutation
50%
Adolescent Idiopathic Scoliosis
50%
Speech Impairment
50%
Consanguineous
50%
Trichilemmal Cyst
50%
Planar Cell Polarity
50%
Disease-associated
50%
Chromosome Rearrangement
50%
Polyalanine Tract
50%
Synpolydactyly
50%
Primary Microcephaly
50%
Melorheostosis
50%
LEMD3
50%
Pakistani Family
50%
Craniofacial Skeleton
50%
Prefrontal Activity
50%
Symphalangism
50%
Fluctuating Asymmetry
50%
Alanine Expansion
50%
Sacral Vertebrae
50%
Cataract
50%
Connexin 46
50%
Warburg Micro Syndrome
50%
Preaxial Polydactyly
50%
Metatarsal
50%
Sensorineural Deafness
50%
Precuneus
50%
Novel Point mutations
50%
Micro Syndrome
50%
Triphalangeal Thumb
50%
Limb Development
50%
Sonic Hedgehog
50%
Eugenics
50%
Brachydactyly
50%
Bone Morphogenetic protein-2 (BMP-2)
50%
Eye Color
50%
Conserved Regulatory Elements
50%
HERC2
50%
Developmental Aspects
50%
VANGL1
50%
Eyebrow
50%
Evolutionary Distinctiveness
50%
Biochemistry, Genetics and Molecular Biology
Regulatory Sequence
100%
Sonic Hedgehog
70%
Genetics
70%
Bone Morphogenetic Protein 2
64%
Autosomal Dominant Inheritance
60%
Exon
60%
Linkage Analysis
57%
Binding Affinity
57%
Candidate Gene
57%
Evolution
55%
Dermatoglyphic
50%
Autosomal Recessive Disorder
50%
Point Mutation
50%
Neurotransmitter
50%
Enzyme Active Site
50%
Adolescence
50%
Catenin
50%
Genotype Phenotype Correlation
50%
Chromosome Rearrangement
50%
GTPase-activating Protein
50%
Factor V
50%
Transcription Factor
50%
Mutated Genes
50%
Dominant Inheritance
50%
Cell Polarity
50%
Limb Development
50%
MLH1
50%
Compound Heterozygosity
50%
OCA2
50%
HERC2
50%
Eye Color
50%
Retinoic Acid Receptor
50%
WDR62
50%
Germ Cell
50%
Enhancer Region
50%
Germline
50%
GDF5
50%
Regulatory Element
50%
Intron
42%
Gene Linkage
35%
Proband
35%
Consanguinity
33%
Bone Morphogenetic Protein
31%
Gene Mutation
30%
Mosaicism
25%
Microsatellite Marker
25%
Germline Mutation
25%
Receptor Gene
25%
Fibroblast Growth Factor
25%
Homeobox Gene
25%
Medicine and Dentistry
Autosomal Dominant Inheritance
83%
Ectrodactyly
60%
Exon
58%
Missense Mutation
55%
Congenital Malformation
50%
Skeleton
50%
Adolescent Idiopathic Scoliosis
50%
Cell Polarity
50%
Sebaceous Cyst
50%
Bone Malformation
50%
Dysostosis
50%
Dermatoglyphic
50%
Fluctuating Asymmetry
50%
Limb Development
50%
Cataract
50%
Macular Degeneration
50%
Limb Malformation
50%
Catenin
50%
Axial Skeleton
50%
Noggin
50%
Sensorineural Hearing Loss
50%
Synostosis
50%
Hypotrichosis
40%
Mosaicism
33%
Intron
29%
Proximal Phalanx
25%
Middle Phalanx
25%
Small Finger
25%
Limb Patterning
25%
Polydactyly
25%
Hypospadia
16%
