Alpha 2.0
Login Register
» Authors » Sara Benito-Sanz

Sara Benito-Sanz

Explore the profile of Sara Benito-Sanz including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 27
Citations 407
Followers 0
Related Specialties
Genetics
Endocrinology
Science
Top 10 Co-Authors
Karen E Heath
Angel Campos-Barros
Miriam Aza-Carmona
Isabel Gonzalez-Casado
Jesus Argente
Eva Barroso
Alberta Belinchon
Alfonso Hisado-Oliva
Angela Del Pozo
Encarna Guillen-Navarro
Published In
Eur J Hum Genet
Am J Med Genet A
J Clin Endocrinol Metab
Am J Hum Genet
Sci Rep
Affiliations
Soon will be listed here.
Recent Articles
1.
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
Ganapathi M, Matsuoka L, March M, Li D, Brokamp E, Benito-Sanz S, et al.
Eur J Hum Genet . 2023 Jul; 31(10):1117-1124. PMID: 37500725
Nuclear receptor subfamily 2 group F member 2 (NR2F2 or COUP-TF2) encodes a transcription factor which is expressed at high levels during mammalian development. Rare heterozygous Mendelian variants in NR2F2...
2.
Novel variant in as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report
Baz-Redon N, Soler-Colomer L, Fernandez-Cancio M, Benito-Sanz S, Garrido M, Moline T, et al.
Front Endocrinol (Lausanne) . 2022 Oct; 13:957969. PMID: 36303863
The palmitoylation of the Hedgehog (Hh) family of morphogens, named sonic hedgehog (SHH), desert hedgehog (DHH), and Indian hedgehog (IHH), is crucial for effective short- and long-range signaling. The hedgehog...
3.
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies
Sentchordi-Montane L, Benito-Sanz S, Aza-Carmona M, Diaz-Gonzalez F, Modamio-Hoybjor S, de la Torre C, et al.
Eur J Endocrinol . 2021 Sep; 185(5):691-705. PMID: 34516402
Objective: Next generation sequencing (NGS) has expanded the diagnostic paradigm turning the focus to the growth plate. The aim of the study was to determine the prevalence of variants in...
4.
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
Sentchordi-Montane L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parron-Pajares M, de la Torre C, et al.
J Clin Endocrinol Metab . 2020 Apr; 105(8). PMID: 32311039
Context: Heterozygous variants in the Indian hedgehog gene (IHH) have been reported to cause brachydactyly type A1 and mild hand and feet skeletal anomalies with short stature. Genetic screening in...
5.
Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype
Parween S, Fernandez-Cancio M, Benito-Sanz S, Camats N, Rojas Velazquez M, Lopez-Siguero J, et al.
J Clin Endocrinol Metab . 2020 Feb; 105(4). PMID: 32060549
Context: Mutations in cytochrome P450 oxidoreductase (POR) cause a form of congenital adrenal hyperplasia (CAH). We report a novel R550W mutation in POR identified in a 46,XX patient with signs...
6.
A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome
Fernandez-Cancio M, Viswanath N, Puzhankara R, Valiyaprambil Pavithran P, Mora-Palma C, Camats N, et al.
Sex Dev . 2019 Apr; 13(2):87-91. PMID: 30933950
Persistent müllerian duct syndrome (PMDS) is characterized by the presence of müllerian duct derivatives in otherwise phenotypically normal males. Homozygous or compound heterozygous alterations in AMH or AMHR2 have been...
7.
Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene
Skuplik I, Benito-Sanz S, Rosin J, Bobick B, Heath K, Cobb J
Sci Rep . 2018 Sep; 8(1):14292. PMID: 30250174
Haploinsufficiency of the human SHOX gene causes Léri-Weill dyschondrosteosis (LWD), characterized by shortening of the middle segments of the limbs and Madelung deformity of the wrist. As many as 35%...
8.
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature
Sentchordi-Montane L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis A, Sanchez-Garre C, Prieto-Matos P, et al.
Clin Endocrinol (Oxf) . 2018 Feb; 88(6):820-829. PMID: 29464738
Objective: Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant skeletal dysplasias, spondyloepiphyseal dysplasia, Kimberley type (SEDK), and osteochondritis dissecans, as well as in a severe...
9.
Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature
Hisado-Oliva A, Ruzafa-Martin A, Sentchordi L, Funari M, Bezanilla-Lopez C, Alonso-Bernaldez M, et al.
Genet Med . 2017 Jun; 20(1):91-97. PMID: 28661490
PurposeC-type natriuretic peptide (CNP) and its principal receptor, natriuretic peptide receptor B (NPR-B), have been shown to be important in skeletal development. CNP and NPR-B are encoded by natriuretic peptide...
10.
Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region
Benito-Sanz S, Belinchon-Martinez A, Aza-Carmona M, de la Torre C, Huber C, Gonzalez-Casado I, et al.
J Hum Genet . 2016 Sep; 62(2):229-234. PMID: 27604558
Short stature homeobox gene (SHOX) is located in the pseudoautosomal region 1 of the sex chromosomes. It encodes a transcription factor implicated in the skeletal growth. Point mutations, deletions or...