Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.

Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants. Am J Med Genet A. 2021 03; 185(3):889-893.

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subject areas

Abnormalities, Multiple
Alleles
Clubfoot
Codon, Nonsense
Dwarfism
Female
Heart Defects, Congenital
Heterozygote
High-Throughput Nucleotide Sequencing
Humans
Hypogonadism
Infant, Newborn
Kallmann Syndrome
Loss of Function Mutation
Muscle Hypotonia
Pectus Carinatum
Phenotype
Puberty, Delayed
Scoliosis
Semaphorin-3A
Syndrome

authors with profiles

Daniela Del Gaudio