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Abnormal Immune Profile in Individuals with Kabuki Syndrome
by
Comel, Margot
,
Saad, Norma
,
Sil, Debapratim
,
Apparailly, Florence
,
Willems, Marjolaine
,
Djouad, Farida
,
Andrau, Jean-Christophe
,
Lozano, Claire
,
Genevieve, David
Published in
Journal of clinical immunology
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First report of a short in‐frame biallelic deletion removing part of the EGF‐like domain calcium‐binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C
by
Ravel, Jean‐Marie
,
Comel, Margot
,
Wandzel, Marion
,
Bronner, Myriam
,
Tatopoulos, Aurélie
,
Renaud, Mathilde
,
Lambert, Laëtitia
,
Bursztejn, Anne‐Claire
,
Bonnet, Céline
Published in
American journal of medical genetics. Part A
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American Journal Of Medical Genetics. Part A
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Journal Of Clinical Immunology
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Autosomal Recessive Cutis Laxa Type 1C
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Calcium-Binding Epidermal Growth Factor-Like Domain
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Calcium‐Binding Epidermal Growth Factor‐Like Domain
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