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Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome
by
Artamonova, Irina N
,
Zlotina, Anna M
,
Ismagilova, Olga R
,
Levko, Tatyana A
,
Kolbina, Natalia Yu
,
Bryzzhin, Aleksandr V
,
Smorodin, Andrey P
,
Borodin, Alexandr V
,
Mamaeva, Ekaterina A
,
Sukhotskaya, Anna A
,
Kagantsov, Ilya M
,
Malysheva, Daria A
,
Vasichkina, Elena S
,
Pervunina, Tatiana M
,
Petrova, Natalia A
Published in
Frontiers in pediatrics
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Case Report: A novel PHOX2B p.Ala248_Ala266dup variant causing congenital central hypoventilation syndrome
by
Artamonova, Irina N
,
Zlotina, Anna M
,
Ismagilova, Olga R
,
Levko, Tatyana A
,
Kolbina, Natalia Yu
,
Bryzzhin, Aleksandr V
,
Smorodin, Andrey P
,
Borodin, Alexandr V
,
Mamaeva, Ekaterina A
,
Sukhotskaya, Anna A
,
Kagantsov, Ilya M
,
Malysheva, Daria A
,
Vasichkina, Elena S
,
Pervunina, Tatiana M
,
Petrova, Natalia A
Published in
Frontiers in pediatrics
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Frontiers In Pediatrics
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Congenital Central Hypoventilation Syndrome
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Genotype–Phenotype Correlation
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Hirschsprung Disease
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Life Sciences & Biomedicine
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Novel Mutation
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Pediatrics
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Phox2B
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Polyalanine Sequence
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